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Free Online Pedigree Tool

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Try our Pedigree and Risk Assessment Software

Explore Progeny Clinical - Increase your efficiency in identifying inherited risk. Draw and manage pedigrees, online FHQ's, integrated risk modeling, genetic test ordering/tracking, letter generation, custom reporting, EMR integration and much more.

Since 1996, Progeny has been the worldwide leader in pedigree software and tracking family history data.  Make pedigrees on your own or have it automatically generated by indicating the proband relatives.  Include conditions and custom data per individual, and utilize numerous options to customize the pedigree display.

• Create unlimited pedigrees quickly - drawn or auto-generated
• Customize the size, spacing and look of each pedigree
• Track up to 10 conditions with pedigree symbols and legend
• Track up to 5 custom data fields (subtext) per individual
• Apply and modify individual and relationship attributes
• Save pedigree as an image
• Print pedigree to custom specifications, including 'Fit to Page'

Free 30-Day Trial - Progeny Clinical Pedigree and Risk Assessment Software

PROGENY FREE ONLINE PEDIGREE TOOL: TERMS AND CONDITIONS

Thank you for your interest in Progeny’s Free Online Pedigree Tool Application, which consists of the Pedigree Builder and Draw Pedigree, accessible at https://pedigree.progenygenetics.com/ (the “Application”). For purposes of these Terms & Conditions, references to “Progeny,” “we,” “our,” and “us” means Progeny Genetics LLC.

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THESE TERMS AND CONDITIONS HAVE BEEN UPDATED. THESE TERMS AND CONDITIONS GOVERN YOUR USE OF THE APPLICATION. PROGENY HAS AGREED TO PROVIDE THE APPLICATION ON THE EXPRESS CONDITION OF YOUR ACCEPTANCE OF THESE TERMS AND CONDITIONS IN THEIR ENTIRETY.

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Progeny may terminate this limited license at any time for any reason by, including without limitation, removing the Application from our website. The Terms & Conditions will survive termination.

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3. COPY AND OTHER RESTRICTIONS. Without Progeny’s prior written consent, you may not, nor permit any third party to: (a) sub-license, assign, transfer, distribute, pledge, lease, rent, share, or otherwise convey the Application; (b) modify or adapt the Application; (c) disassemble, decompile, reverse engineer, or otherwise attempt to discover the source code of the Application or the software supporting it; (d) remove any product identification, copyright notices, or other proprietary or other notices from the Application; or (e) disclose system performance of the Application to third parties.

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5. NO MEDICAL ADVICE. The Application is provided as a public service by Progeny. It is not intended to be a substitute for consulting a health care professional or obtaining professional medical advice, diagnosis, or treatment. We do not directly or indirectly practice medicine, render medical advice, or dispense medical services via the Application. Nothing contained in the Application should be intended to be a medical diagnosis or treatment directive or recommendation. Reliance on the Application is solely at your own risk.

6. NOTE TO PARENTS. The Application is directed at an adult audience and is not intended or designed for children under the age of 13. We do not knowingly collect information from children. By using this Application, you confirm that you are over the age of 13.

7. CHANGES TO THESE TERMS. Progeny may revise or modify these Terms & Conditions from time to time. Such changes, revisions, or modifications shall be effective immediately upon posting such revisions or modifications on www.progenygenetics.com. If you disagree with these Terms & Conditions, your sole remedy is to discontinue your use of the Application. Any use of the Application by you after such notice shall constitute acceptance of the changes.

8. LIMITED WARRANTY AND LIMITATION OF LIABILITY. PROGENY WARRANTS THAT THE APPLICATION IS PROVIDED SOLELY ON AN "AS IS" AND "AS AVAILABLE" BASIS, WITHOUT WARRANTY OF ANY KIND. PROGENY MAKES NO OTHER WARRANTIES, EXPRESS OR IMPLIED, AS TO NONINFRINGEMENT OF THIRD-PARTY RIGHTS, MERCHANTABILITY, FUNCTIONALITY, OR FITNESS FOR ANY PARTICULAR PURPOSE. WITHOUT LIMITING THE GENERALITY OF THE FOREGOING, PROGENY ASSUMES NO LIABILITY FOR DAMAGE TO ANY SYSTEM ON WHICH THE APPLICATION IS USED, ANY DATA PROCESSED BY THE APPLICATION, OR FOR LOSSES ARISING DUE TO THE ACTS OR OMISSIONS OF THIRD PARTIES IN CONNECTION WITH THE APPLICATION. PROGENY MAKES NO WARRANTIES THAT THE APPLICATION WILL BE ERROR-FREE OR UNINTERRUPTED, OR THAT ANY DEFECTS WILL BE CORRECTED, OR THAT YOUR USE OF THE APPLICATION WILL PROVIDE SPECIFIC RESULTS. YOU ARE RESPONSIBLE FOR TAKING ALL NECESSARY PRECAUTIONS TO ENSURE THAT ANY CONTENT YOU OBTAIN FROM THE APPLICATION IS FREE OF VIRUSES. PROGENY RESERVES THE RIGHT TO MAKE CHANGES TO THE APPLICATION FROM TIME TO TIME WITHOUT NOTICE OR OBLIGATION.

PROGENY SHALL NOT BE HELD RESPONSIBLE FOR ANY ACTION TAKEN THAT IS BASED ON USE OF THE APPLICATION. PROGENY EXPRESSLY DISCLAIMS ANY LIABILITY, WHETHER BASED IN CONTRACT, TORT, STRICT LIABILITY, OR OTHERWISE, EXCEPT FOR GROSS NEGLIGENCE OR WILLFUL INJURY, FOR ANY DIRECT, INDIRECT, INCIDENTAL, CONSEQUENTIAL, OR SPECIAL DAMAGES ARISING OUT OF OR IN ANY WAY CONNECTED WITH ACCESS TO OR USE OF THE APPLICATION, EVEN IF PROGENY HAS BEEN ADVISED OF THE POSSIBILITY OF SUCH DAMAGES. IF YOU ARE DISSATISFIED WITH ANY ASPECT OF THE APPLICATION, OR WITH ANY OF THESE TERMS AND CONDITIONS, YOUR SOLE AND EXCLUSIVE REMEDY IS TO DISCONTINUE USING THE APPLICATION. .

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10. GOVERNING LAW AND VENUE. You agree that any dispute relating to the Application will be resolved according to the laws of the State of Florida, without regard to conflict of law rules. You agree that the courts of the State of Florida have exclusive jurisdiction over any legal proceedings arising out of or related to your use of the Application. If you are accessing the Application from any location with regulations or laws governing personal data collection, use, or disclosure that differ from United States laws or regulations, please note that you are transferring personal information to the United States and you consent to that transfer and to the collection and processing of such information in the United States.

11. EXPORT LAW ASSURANCES. You may not use or otherwise export or re-export the Application except as authorized by United States law and the laws of the jurisdiction in which the Application was legally obtained or authorized by Progeny. In particular, but without limitation, the Application may not be exported or re-exported (a) into (or to a national or resident of) any U.S. embargoed countries or (b) to anyone on the U.S. Treasury Department’s list of Specially Designated Nationals or the U.S. Department of Commerce Denied Person’s List or Entity List. By using the Application, you represent and warrant that you are not located in any such country or on any such list. .

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14. WAIVERS. The failure or delay of Progeny to exercise any of its rights under these Terms & Conditions shall not be a deemed waiver thereof and no waiver by Progeny of any violation of these Terms & Conditions shall constitute a waiver of any other or subsequent violation.

Online Pedigree Chart Maker

Draw Pedigree Chart online, with an Easy-to-Use online Pedigree Chart tool

Design Pedigree Chart online

Looking for a pedigree chart maker? Visual Paradigm's online pedigree chart software makes has all the pedigree chart symbols and connectors you need to create professional pedigree chart. No matter what kind of pedigree chart you need to create, our online diagram tool just works perfectly.

We come with a rich set of pedigree chart templates. You may start with a blank diagram or a pre-made pedigree chart template. Some of them are listed below. Click the Edit button to start editing straight away. It's free and no prior-registration needed.

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Create fast, professional looking diagrams with over 2,000 professionally designed templates.

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Pedigree Chart Maker

Make pedigree charts, family tree, and more in minutes, the easy choice for creating pedigree charts online.

SmartDraw is the world's best way to make a pedigree chart.

A pedigree chart can show the genetic history of a family or animals over several generations. You can use the chart to show genetic disorderss through generations.

Instead of starting with a blank page, SmartDraw provides a pedigree template where the father-mother shapes are already connected. Add children or another generation with easy commands.

You can then collaborate on your chart with your family or a team by saving it to a shared folder or sharing the file by simply emailing them a link.

SmartDraw pedigree charts are always presentation-ready. Export them to Microsoft Word ® , Excel ® , PDF, or PowerPoint ® in just a few clicks.

Need to add your visual to Google Docs? SmartDraw also connects with any Google Workspace ™ application.

Easy to Edit Pedigree Templates

Choose a pedigree chart template below to open SmartDraw in your browser to start making a pedigree chart right now.

SmartDraw is Used by Over 85% of the Fortune 500

Try smartdraw's pedigree chart software free.

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Bright in the Middle

Rigorous and Fun Science Activities

7 Fantastic Pedigree Chart Lesson Ideas for your Middle School Classroom!

7th Grade Science NC , Genetics , Life Science , Middle School Science

What do you do in your pedigree chart lesson? For middle school students, this is usually the first time that they hear what a pedigree chart is, and they will either love it or push it to the side.

I personally love to teach about pedigree charts because I absolutely love genetics. It’s an amazing and growing field. There’s a lot more to it than just memorizing symbols, and it can be so much more!

In this post, I want to share with you how to bring the WOW factor to your science classroom and teach your students about pedigree charts in a fun and engaging way that they will love.

First, I will share with you some ideas on how to get your students engaged before you dive into the content, then I will share with you a lesson that can be an engaging way to teach the material, and finally I will share some ideas on how you can widen their knowledge on the topic.

Engaging WONDER Strategies for your Pedigree Chart Lesson Plan

To bring that WOW factor to your science classroom, one of the first things that you have to do is engage your students in the topic and get them intrinsically motivated to learn what you are teaching. You have to help them to wonder. Pedigree charts are a very interesting topic, and can be dry if you let it, but it doesn’t have to be!

I have 3 ideas to engage your students in this awesome genetics topic. You can choose which fits best for your classroom.

Pedigree Chart Symbol Discovery

This is an inquiry-based activity where your students have the opportunity to “guess” what all of these symbols even mean!

Don’t give too much away in the “wonder” stage of the lesson, but in this case, you can tell them that a pedigree chart uses symbols to represent people to show the inheritance of a single trait over generations.

That’s all that you have to let them know! It’s like a family tree that traces a genetic trait.

Then, you can put them in groups with cards such as circles, squares, vertical lines, horizontal lines, shaded shapes, shapes that are not shaded, and so on. It’s up to you how far into it you’d like to get.

You can either have them to just guess what those symbols could be, or you can have some cards that they could match it with.

Don’t tell them if they are right or not. They are WONDERING. Time to move on to the lesson!

Post-It Notes Genetics Discussions

Post-It notes are a great way to get each and every one of your students engaged in the topic. It’s also a great way to view the prior knowledge, start good conversations, and address misconceptions.

So, what you do is give each of your students a post-it note and ask a question. They will write the answer down and then carry it to wherever you wish.

You can then call out some of the answers, see if there are any patterns, and have some good conversations.

So, what are some good questions to ask your students before teaching about pedigree charts?

• What does inheritance mean?
• Do you know of any genetic disorders? What is it? Explain.
• What are traits?
• What is the difference between an inherited trait and an acquired trait?
• Do you know what a pedigree chart is? What are pedigree charts used for?

Your question can be anything that ties to the lesson. What would your students be most interested in answering?

Geneticist Guest Speaker

Guest speakers are wonderful. I repeat, guest speakers are wonderful!

I will say that there have been times where the speakers were not used to speaking to a middle school audience; however, I’ve had some great ones as well.

Before learning about pedigree charts, it would be so good to get a local geneticist or even someone who is willing to come over the webcam.

They can share all of their knowledge about inherited traits, pedigree charts, and much more! You can have your students write down questions beforehand that they may have.

I will give one piece of advice to you if you’ve never had a guest speaker. Give your students something to do. One example that you can use is while the speaker is speaking, have your students write down 3 interesting things, 2 new things that they learned, and 1 question that they may have.

Pedigree Charts Explained – Overcome the Overwhelm with this Lesson

Hopefully you can prevent some overwhelm of information before you even share the content with your students. Their brains should be ready, and interactive lessons are the perfect way to continue this pattern.

Interactive lessons are created for the purpose of reducing student cognitive load by breaking information down into chunks with embedded interactive activities that help students process the information. There are also other research-based strategies included such as sorting, highlighting important information, and keeping relative pictures and text together.

How do pedigree charts work? This pedigree charts interactive lesson is a perfect addition to help your students with understanding pedigree charts. It is a great pedigree chart tutorial.

This lesson answers the question, “What is the purpose of a pedigree chart?”. In addition, it covers symbols in pedigree charts, individuals, determining genotypes, autosomal and sex-linked traits, homozygous and heterozygous, and more!

Students can participate in answer in the text box activities, drag-and drop genotypes, and more! This is a great way for students to get their pedigree chart notes.

You can also find this on TPT.

Should You Use Pedigree Charts Worksheets?

So, I’m not a huge fan of worksheets all of the time, but they have their place. I think that this topic is one of those where practicing on a worksheet is useful, but guess what? I think that there are also other ways to widen student knowledge so they can broaden what they have learned already about this fun topic.

Here are 3 ideas that you can take with you that give you an alternate assignment besides using a worksheet.

Tell a Story

This was one of my favorite things to do with my students right after my pedigree lesson. I would pull up a random pedigree chart, and I’d pick a student from the class to tell me a story about that pedigree chart. It was SO much fun.

They would start off something like this. Bob and Sally got married and had 2 sons and 1 daughter named Bobby, Joe, and Anna Lee…. Then they would carry on through generations and also speak about the trait that is being traced through the chart.

I would allow as many students to do this that wanted to as time allowed. They have a ball using their creativity to do this, and they also love to hear stories that their classmates share.

Pedigree Charts Task Cards

Want something like a worksheet, but just need something different? I love task cards. There are so many ways to use them in your classroom .

These pedigree charts task cards have so many pedigree charts examples and questions about them. They cover the definition, why are pedigrees useful, homozygous and heterozygous, phenotypes, and genotypes, and more!

They help students answer question such as:

• Which pedigree symbol is used to represent a person that has the trait?
• In a pedigree a ___________________ line represents a cross/marriage.
• How many boys are in the pedigree?

There are 24 task cards in this set and an answer sheet, along with an answer key, are included.

Task cards are great for early finishers, review, RTI, science centers, and more. I love that it allows my students to get out of their seat and get some of those middle school wiggle out.

They can also be found on TPT.

Have Students Create Their Own Chart

Usually, after I teach about pedigree charts, I go right into genetic variations and genetic disorders . It helps to tie in what they learned about traits. Once they have a good understanding of these topics, they can create their own pedigree chart to show off.

Have your students either work individually, in partners, or in groups to research a genetic disorder and create a pedigree chart to represent a family with that disorder. This will really take some research and understanding of dominant and recessive traits. They can really learn a lot with this!

Students can look up a famous family, whether real or fictional such as the royal family, Harry Potter’s family, superheroes , or they can just make one up!

They can choose a trait of their choice and make a pedigree.

This can be challenging for some, but  lot of fun, and students are given choice.

You can make it a big deal! Give prizes for those they have the most creative pedigree chart and for the one with the most accurate. You can also tell your students that these will be displayed in the hallway, so they should really do their best!

Help your students master science content!

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Pedigree Diagram Template

Map genetic traits to family members with a pedigree diagram.

Trusted by 65M+ users and leading companies

About the Pedigree Diagram Template

You can identify how traits and diseases are passed from one generation to the next using the pedigree diagram template. Pedigree Diagrams are useful for doctors, veterinarians, farmers, and anyone else working with genes or interested in genetics.

What is a pedigree diagram?

A pedigree diagram is an advanced version of a family tree, that is commonly used to diagram relationships within family members. It shows how genetic traits and diseases are passed from one generation to the next. 

You can use a pedigree diagram to see which family members carry a certain trait, like a widow’s peak. Doctors use them to see how diseases are passed from parents to children. Farmers use it in husbandry to track traits in crops and animals. 

In a pedigree diagram, males are represented by squares; females by circles. Shaded symbols mean someone has a specific trait (e.g., dimples). Unshaded symbols mean an individual doesn’t have a specific trait. 

Benefits of pedigree diagrams

Pedigree diagrams can help doctors identify and diagnose diseases. 

For example, let’s say someone has a family history of heart disease. A pedigree diagram will tell us whether this individual is likely to have a heart condition. This can help doctors diagnose and treat patients faster, then provide better healthcare. 

In science, pedigree diagrams can help understand how traits are inherited. 

For example, dimples may pass from father to son in one family, and from mother to daughter in another. Blonde hair might pass from grandparents to grandchildren, but not from parents to children. Pedigree diagrams make patterns like these easy to identify.  

Create your own pedigree diagram

Miro’s is the perfect starting point for a pedigree diagram. Get started by opening the template on this page and following the steps below. 

Add individuals to your pedigree diagram. Go with as many as you can — or as many as are relevant. Place older generations at the top and younger ones below them. 

Males are represented by squares. Females are represented by circles.

You can always use Miro to change symbols around later, so if you make a mistake, don’t worry. Just try to be as thorough as possible. 

Connect individuals using lines of marriage and descent. A straight horizontal line represents the marriage between two individuals.

Descent is represented by diagonal and vertical lines that connect a couple from an older generation to a younger individual. 

Add dates. This isn’t strictly necessary, but it can help keep track of individuals across generations.

Add dates of birth, death, and/or marriage lines to your pedigree diagram template. 

Use symbols to show which family members have or don’t have a specific trait.

For example, let’s say your pedigree diagram shows widow’s peaks. Family members who don’t have a widow’s peak will be represented by unshaded symbols. Family members who do have a widow’s peak will be represented by a shaded symbol. 

Once you’re ready to collaborate and receive feedback, use Miro to share your Pedigree diagrams. You may want to also create a family tree to share other details of your family.

Example of pedigree diagram

Let’s imagine the Smith family has a long history of diabetes. But, some members of the family develop the condition, while others don’t. 

We can use a pedigree diagram to see the pattern of inheritance, i.e., how the disease is passed from parent to child.

This can help us predict whether a given Smith family member has diabetes or will develop it in the future. 

How do you draw a Pedigree Diagram?

Open our Pedigree Diagram template. Map out a family tree using lines to show familial relationships. Once you’re done, identify individual genetic traits using Pedigree Diagram shapes and shading.

What do the symbols in a Pedigree Diagram mean?

A square represents a male; a circle indicates a female. Shaded shapes mean someone has a genetic trait. Unshaded shapes mean an individual doesn’t have a trait. A half-shaded shape means that someone carries a genetic trait without it being visible.

What is the purpose of a Pedigree Diagram?

A Pedigree Diagram is a family tree that shows how genes are passed from generation to generation. It can help us predict the likelihood of a child having a disease or trait, e.g., dimples or diabetes. It can also help us see how traits are passed from parents to children.

Is a circle male or female in Pedigree Diagrams?

In Pedigree Diagrams, a circle is always female. This is universal for all organisms, including trees and flowers. Males are represented by squares.

What do dark circles mean on a Pedigree Diagram?

A dark circle represents a female that has a visible genetic trait. For example, a woman who has her father’s blonde hair or her mother’s dimples might be represented by a dark circle.

Get started with this template right now.

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CREATE YOUR PEDIGREES IN JUST 3 CLICKS

Pedigree Expert generates your pedigrees in just 3 clicks: 1:    Create your account 2:    Add your animals    . 3:   Hit the Print button Access your pedigrees from any desktop, phone or tablet , at home or wherever you are !

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Keep track of racing & contest scores , and all medical information

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Choose Paper Size , Style Colors, and add your own Breeding Logo

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genoDraw: A Web Tool for Developing Pedigree Diagrams Using the Standardized Human Pedigree Nomenclature Integrated with Biomedical Vocabularies

Luciano garcia-giordano.

1 Biomedical Informatics Group, DIA & DLSIIS, ETSI Informáticos, Universidad Politécnica de Madrid, Boadilla del Monte, Spain

Sergio Paraiso-Medina

Raul alonso-calvo, francisco javier fernández-martínez.

2 Genetics and Inheritance Research Group, Instituto de Investigación Hospital Universitario 12 de Octubre (i+12), Madrid, Spain

Victor Maojo

The integration of genetic information in current clinical routine has raised a need for tools to exploit family genetic knowledge. On the clinical side, an application for managing and visualizing pedigree diagrams could provide genetics specialists with an integrated environment with potential positive impact on their current practice. This article presents a web tool (genoDraw) that provides clinical practitioners with the ability to create, maintain and visualize patients’ and their families’ information in the form of pedigree diagrams. genoDraw implements a graph-based three-step process for generating diagrams according to a de facto standard in the area and clinical terminologies. It also complies with five characteristics identified as indispensable for the next-generation of pedigree drawing software: comprehensiveness, data-drivenness, automation, interactivity and compatibility with biomedical vocabularies. The platform was implemented and tested, confirming its potential interest to clinical routine.

Introduction

Informatics tools able to exploit genetic information in familial inheritance are increasingly necessary in clinical practice. Making sense of the genetic relations among individuals is an important task even in day-to-day medical activities in the genetics area. However, the availability of applications that allow for registering and visualizing family genetic information is not yet up to par with the necessary requirements for the task. In our long-term collaboration with the 12 de Octubre Hospital, Madrid, Spain, genetics specialists showed an interest in having a tool to facilitate the creation, management and visualization of pedigree diagrams, a visual system to represent families, in the day-to-day clinical activities of these specialists. However, the requirements presented to us for such a tool revealed that some characteristics essential for pedigree drawing systems to be of use in clinical practice are not found in the currently available set of platforms for this purpose. The first characteristic should be (a) that the system complies with the Standardized Human Pedigree Nomenclature – a de facto standard - in its updated version 1 and is able to represent even the less-common scenarios that can be of interest for being documented; (b) that the tool is capable of automating the process of drawing the pedigree; (c) that the system is capable of generating the diagram from structured data. Having the characteristics (b) and (c), the diagrams do not need to be stored as visual diagrams (as images, for instance), but as structured data of each individual represented, as well as relations among them. Thus, data retrieved from medical information systems can be represented as pedigree diagrams with minimal intervention of the user. One of the necessities for this tool was that it was easy to use in a clinical scenario. For this purpose, we concluded that another key characteristic should be (d) that the system would present good usability characteristics, enabling the user to interact easily and rapidly with the interface. Thus, specialists could use the tool to create and manage pedigrees during their medical encounters with patients. Additionally, since the tool must be adapted to work in a clinical environment, some integration aspects should be considered. In our analysis, one integration capability that was especially important was that (e) the individuals represented in our tools should have their traits and diseases annotated as terms extracted from widely-adopted biomedical vocabularies (i.e. Human Phenotype Ontology (HPO) 2 , SNOMED-CT 3 and the Online Mendelian Inheritance in Man (OMIM) 4 ).

In this paper, we refer to the five described characteristics as (a) comprehensiveness, (b) automation, (c) data-drivenness, (d) interactiveness, and (e) compatibility. They are particularly important in the context of precision medicine, in which very diverse situations must be represented, and data stored in clinical information systems must be retrieved and shown to the specialist. Then, specialists will be able to take more information into consideration when making, for example, a diagnosis, or provide a better, more personalized treatment. Additionally, the presented characteristics offer the possibility to better analyze the way in which families are structured and how genetic diseases are inherited, opening possibilities in statistical and medical research.

An analysis of the pedigree diagram drawing tools and platforms currently available revealed that some of the five characteristics can be found in some of these platforms. Examples of such platforms are Madeline 2.0 5 , My Family Health Portrait 6 , CRA Health 7 , Progeny 8 , and GenoPro 9 . However, none of the tools analyzed combine the five characteristics simultaneously. Furthermore, none of the tools implement the updated version of the nomenclature mentioned above 1 , and, to our knowledge, none of the systems support the annotation of diseases as terms from biomedical vocabularies. In order to offer a solution that aims to comply with the five characteristics identified, we developed genoDraw (www.genodraw.com). In this work, we present the foundations on which this system is built.

We identified the five characteristics that we believe are necessary for a better acceptance of this kind of system in clinical practice. Hence, the foundational idea around genoDraw is to be a platform for the creation, management and visualization of pedigree diagrams. In this section, we present the basis of our approach for the representation engine and the strategies that we applied so that each of the characteristics (a-e) is addressed by genoDraw. In our specific case, a web-based platform was ideal. At the end of this section, we present the architectural aspects of our system and other implementation details.

First, to represent the pedigree diagrams, we follow the Standardized Human Pedigree Nomenclature 1 , 10 . This nomenclature is a recommendation of the National Society of Genetic Counselors and it is a current de facto standard in the discipline. The definitions and rules established by the updated version of this nomenclature 1 enable us to define an algorithmic process for the diagram creation in a broad range of reproductive scenarios. Examples include planned adoptions, ovum donations, surrogate gestations, as well as the expected usual situations, such as single and multiple gestations.

Second, to correctly store the necessary entities and links and draw them on a canvas, we represent the diagram internally as a graph (structured data). Entities (nodes) of this internal graph are individuals, gestations and relationships. In each of them, data are stored. For instance, a gestation can be monozygotic or not when more than one child is listed, and an individual might be affected by a certain trait. A second graph, the one to be drawn as a pedigree diagram, is generated using data describing these entities and their relations (biological parenthood, partner of a relationship, etc.). This is accomplished using the three-step process described below.

The three-step process involved in drawing pedigree diagrams is responsible for transforming the internal graph, which stores what is essential to the representation as structured data, into the representation graph. The representation graph, in turn, follows the nomenclature and does not necessarily contain the same nodes and links as the internal one. In fact, in many scenarios, the representation graph will be composed of more nodes and fewer edges than the internal one. For example, the internal graph stores, for each gestation, each of the parents. However, when a relationship between the parents is identified, only one link between the relationship and the gestation is drawn, and not those between the gestation and each parent. As an illustration of this example, Figure 1 shows, on the left-hand side, the objects of the internal graph relative to three individuals ( A, B and C ), a relationship ( R ) and the gestation of C (G) , as well as the connections among them. The resulting nodes and links of the matching pedigree diagram, drawn after following the three steps, are shown on the figure’s right-hand side.

A simple example of generation of a pedigree diagram from an internal graph. The internal graph is represented visually on the left side of the image, and the representation graph on the right side. As we can see, the links between the gestation and each parent are substituted by one link between the gestation and the relationship of the parents. This simplification is only done when possible. In accordance with the adopted nomenclature, an empty circle corresponds to a female individual and an empty square to a male. The horizontal line between A and B is their relationship, and the vertical line symbolizes that both are parents of C . The gray circles over the relationship and gestation nodes are added for usability purposes.

The first step of the three-step process generates each of the nodes to be drawn. This step decides which entities are to be drawn or not and draws the squares, circles, diamonds and other artifacts that visually represent each entity. For individuals, characteristics such as gender, being deceased or not, and traits by which they are affected are characteristics that are reflected in the symbol drawn on the canvas. In Figure 1 , for instance, the individual C is affected by sickle cell anemia (OMIM: #603903). This disease is annotated as a term from the Online Mendelian Inheritance in Man (OMIM) 4 and, as described later, is included in a collection of traits of the corresponding individual as a reference to such term in the OMIM vocabulary. This characteristic is reflected in the representation graph as a gray mark in the node that corresponds to the individual C . In the case of gestations, only those that correspond to multiple gestations will have drawn at the node other than the gray circle, which we add for usability purposes as discussed later. When a node refers to a relationship, only cases of infertility and divorce are annotated visually. Otherwise, only the gray circle is drawn.

The second step generates the edges between represented nodes. Visually, they are the straight lines that connect related entities in the pedigree diagram. This step is based on rules derived from the nomenclature, and explores the internal graph, searching for specific patterns that correspond to drawing a connection between two nodes of the representation graph. Thus, this is the step that makes sense of the relations between nodes. A person is to be connected with his or her gestation if such gestation is decided to be drawn by the previous step. Similarly, a gestation is connected with each parent, or their relationship, if there is one. A relationship, in turn, is to be connected with both partners. By applying the previously mentioned rules, from a given situation we are able to reach a representation graph that is isomorphic to the pedigree derived directly from following the directives of the nomenclature we adopted, with some extensions that will be discussed later.

The third and last step for displaying a pedigree diagram as a graph is the definition of rules for the positioning of the nodes. In our system, the positions of the nodes are calculated following an optimization process conducted after the three steps. One of the inputs of this optimization process is information about which rules need to be vertically or horizontally aligned. Similarly to a solution proposed elsewhere 11 , we define linear constraints for each of these alignments. The third step is the step which generates such linear constraints. This is done by exploring the internal graph in a similar manner as in the second step (by searching for specific patterns that activate rules for the relative positioning of the nodes). An activation triggers the creation of constraints that are followed by the optimization process. One example of alignment rule is that a node of type gestation is to be vertically aligned to the child if there is only one child. As it is depicted in the right side of Figure 1 , the node corresponding to the gestation of the individual C is vertically aligned to the node corresponding to the individual C .

After the third step, we obtain a representation of the pedigree diagram. The nodes are drawn on a canvas visible to the user, the connections (edges) between the nodes are also defined and drawn, and the constraints for alignments are defined. From this point on, the representation is handled by an engine specialized at arranging the nodes on the canvas according to an optimization algorithm and displaying this representation to the user. The optimization algorithm outputs positions for each of the nodes complying with the constraints defined. The optimization is, therefore, the minimization of a stress function with constraints. The function measures the difference between an ideal distance and the current distance between two nodes directly connected. This ideal distance is calculated for each edge of the graph and depends on the types of the nodes it connects. The minimization process is done iteratively and is repeated whenever a change to the representation graph is done. For example, when the user moves a node to another position, the minimization is triggered, changing iteratively the positions of the nodes until a new convergence is found. For the specific purpose of this module, we implement a solution based on an already-existing library 12 that provides an optimization algorithm that is useful for our necessities and enables the user to interact with the representation graph by moving the nodes.

As an illustration of the whole three-step process, we include Figure 2 , in which the individual B is affected by, for example, sickle cell anemia (OMIM code: #603903), has a relationship with A and has had one with C . With individual C, B had twins. We do not know if the gestation was monozygotic, hence the question mark (?) below the gestation node. Both daughters are affected by the disease. The individual B now has a relationship with A , and they adopted F . The dashed line is drawn as so because, since the child is adopted, there is a nonbiological relationship between each parent and the adopted child.

Example of the three-step generation and arrangement processes. On the top-left are nine generated nodes that are the output of the first step of our process, which defines which nodes are to be drawn and draws them according to the nomenclature, with a few stylistic changes. Next, the second step defines the connections between nodes, which are the gray lines drawn. After that, the third step defines the constraints that the optimization engine uses to arrange the nodes on the canvas.

In terms of the characteristics we aimed for our system to possess, by having followed the updated Standardized Human Pedigree Nomenclature 1 , we can ensure that our system can be, in principle, comprehensive enough to represent all the major scenarios that exist in our society. However, we detected some limitations that violated this ideal. One of the limitations is that, according to the symbology of the nomenclature, it is not explicit how a gestation with multiple children should be represented in the case of gestational surrogacy. Another limitation is that, if two individuals that have a relationship have family members in common, they might be included in different generations, thus, horizontally aligning their relationship edges is not feasible. In our system, we addressed these limitations by extending the nomenclature, making it more flexible when this would not render the pedigree diagram nomenclature ambiguous. Our minor changes provide more consistency and flexibility to the representation. In the case of the representation of multiple gestations, we chose to always show the gestation of a person when the parents of this person are also represented. That way, if it is the case of a multiple gestation, two people will be connected to the gestation. In the case of multiple gestation in the context of gestational surrogacy, for example, with our extension, there is no restriction to the child being only one. For the second limitation, in which the two partners of a relationship are members of different generations of the same family, our solution is the removal of the constraint of the partners being horizontally aligned only when there is a conflict in their generations. By implementing a system with our extended nomenclature, we ensure a wide comprehensiveness, by which the system is capable of representing all the situations that can be modeled following the directives of the nomenclature, which are most of the common situations that one can observe in the population.

Data-drivenness and automation are both addressed by defining our three-step process with the focus on generating the diagram from structured data of individuals and their relations and by implementing a representation engine based on optimization 13 . Up to the end of the third step of our three-step process, the generation is fully automated. Having the nodes, the edges and the constraints (alignment rules) that define the pedigree, the representation engine arranges the nodes following an iterative optimization process. The full automation of the representation engine is not possible mainly for two reasons. The first is that structures reached by the optimization engine can be the result of convergences to local optima. That is, the ideal positioning of the nodes might not be reached. The second reason is that personal inclinations of the user are not considered during the positioning of the entities in the canvas. Both reasons might cause a need for small corrections and adjustments to the arrangement of the pedigree.

By allowing the user to move the nodes of the pedigree while keeping the constraints active, we address part of the fourth characteristic we defined as important for our system, which is interactiveness . If the disposition of the nodes does not satisfy the user, he or she can change the positions of some nodes and a new iterative process is initiated, and convergence around the new arrangement is reached. One important characteristic of our representation interaction model is that, while a node is being moved, no rules of the disposition of pedigree diagrams are disregarded. That way, while allowing the user to make changes to the drawn diagram, our system ensures that the representation is correct. Another feature that also contributes to interactiveness is the possibility to add and remove entities of the internal graph by interacting with nodes and context menus associated with each node of the pedigree. From the changes caused in the internal graph, another representation is generated and displayed. When possible, the positions of the existing nodes are kept, so that the user does not need to make any further changes to the parts of the diagram that were already arranged to their expectations. To edit information regarding a specific entity of the internal graph, we implemented a sidebar menu through which information about individuals, gestations and relationships can be inserted, changed or removed. Additionally, to provide better usability of the representation system, we represent the nodes that would correspond only to changes of directions between lines in a paper-based diagram with a semi-transparent gray circle. This feature enables the user to better understand with which entities of the canvas he or she can interact, either by dragging to define a new position or by clicking to view or edit the data associated with the entity that corresponds to the node clicked.

From a usability perspective, the user interacts with the canvas both directly and indirectly. Direct intervention is preferred for simple actions, such as the creation or elimination of entities. Adding a child to an individual, eliminating one or hiding it from the canvas are also direct interactions triggered using context menus directly on the corresponding nodes in the canvas. Indirect interaction is preferred for more complex actions, such as changing the name of an individual or adding another child to an existing gestation, which are made using a sidebar menu. Depicted in Figure 3 is the interface that allows managing a diagram. As we can see, the context menu in the center can trigger simple actions, while the sidebar menu on the right is used for more complex data changes.

Interface of genoDraw. The user is editing the example used in Figure 2 to add a partner to the individual F. As we can see in the sidebar menu, the relation between F and A and F and B are of type ”nonbiological parenthood”. Other information available for the individual F (i.e. gender, name, fertility, etc.) is shown in the different sections of the sidebar menu, which can be extended and collapsed.

The last characteristic we defined as being fundamental for a pedigree drawing software to include in the current context of data integration is compatibility with widely adopted biomedical vocabularies for the annotation of genetic traits and diseases. In this regard, we enable the user to assign traits to individuals in such a way that the traits are considered by the system as terms from biomedical vocabularies. Examples of vocabularies supported by genoDraw are HPO 2 , OMIM 4 and SNOMED-CT 3 . Depending on license-related aspects, the selection of vocabularies can be changed. In this regard, genoDraw can operate on an unlimited number of vocabularies. This compatibility with biomedical vocabularies provides various advantages, such as common reference for each disease, and the possibility to develop further methods to make statistical analysis of the data inserted in internal graphs.

In terms of the architecture of the system, because genoDraw is intended as a platform for the creation, management and visualization of pedigree diagrams, a web-based system was ideal. In Figure 4 , we describe the architecture of genoDraw. After creating a pedigree by interacting with our platform and inserting information of individuals and their relations, the user can save locally a file that includes the internal graph. Having this file, the user can load it on the platform to visualize the pedigree and make further changes to it.

The architecture of genoDraw. The user interacts with a web client application connected with a backend that only handles the distribution of the website itself and the authentication of users. The internal graphs (structured data) are files which are stored locally in the user’s device.

As illustrated in Figure 4 , genoDraw contains a backend that authenticates the user and provides the necessary files for genoDraw to work in the web browser of the user. The internal graph files are, in our implementation, JSON (JavaScript Object Notation) files managed by the user. An internal graph file contains the necessary information to generate a pedigree diagram (i.e. individuals, relationships, etc.). Such a file can be loaded into the platform but is never uploaded to the server. After making the desired changes or visualizing the pedigree, the user can choose to save the internal graph as a file, which is the same file that can be loaded again into the platform in the future for further changes or visualization. One detail of our implementation is that we make use of a database system to handle authentication information. A web server (backend) handles this authentication process and serves the files corresponding to genoDraw to the client. We implemented genoDraw in JavaScript, making use of D3.js 14 and WebCola 12 as libraries for handling the visualization. We selected WebCola as the graph-handling library due to its capability to keep the alignment constraints active while the user manipulates the graph, as well as its capability to handle the structuring process of the diagram (optimization process) based only on alignment rules (constraints). Furthermore, it allows for an interactive use in a wide range of devices, of which traditional computer devices, such as desktops and laptops, as well as tablets, are the most used by our target users.

We designed genoDraw to be adopted in clinical practice as a platform of intense, day-to-day use. Genetics specialists are expected to use our tool in medical encounters.

To evaluate the usability of our system, we have carried out a usability test. The objective of the test was to analyze the time required for a subject to be acquainted with the platform and to observe usability variables, such as if the user was capable of finding the way to insert or alter specific data in the diagram, and how long it took. Additionally, we obtained feedback from the users with some satisfaction questions. The subjects were 26 graduate students in the area of biomedical engineering who had been previously informed about the nomenclature but had no knowledge of our tool. We first let them explore the platform for a few minutes. Then, we presented the students two scenarios of different complexities in plain text and asked them to represent the scenarios as pedigree diagrams using genoDraw. The scenarios contained multiple gestations, ovum donations, surrogate gestations and adoptions, so as to observe what kinds of usability problems could exist in the insertion of the more complex and uncommon scenarios. Furthermore, we asked the students to insert traits and diseases of each individual as specific terms from standard vocabularies. The results of the usability test revealed that most users were familiarized with genoDraw in less than 30 minutes. We also observed that the time required for the users to represent both scenarios ranged from 20 minutes to 50 minutes. The average completion time was 20 minutes for the first scenario and 10 minutes for the second. In the first scenario, which contained a family with a case of multiple gestation, some of the users had difficulties finding the correct way of inserting such type of gestation. We interpret this as a usability issue, since the only path to add a multiple gestation at that moment was to include an additional child to an existing single gestation. In the second scenario, an ovum donation was to be represented, which meant that the users should insert the donor as biological mother in the gestation of the child. While most of the users found the path to adding such information in the pedigree without much effort, many agreed that it was not an intuitive solution. Having detected these and other usability issues, we addressed them.

To assess the correctness of the pedigree diagrams generated using our system, an evaluation of the tool was required to detect and address any incompatibilities or deviations from the standard nomenclature adopted for our system. In our case, we conducted this assessment by progressing through some case studies step-by-step. These practical scenarios were designed by experts at the Genetics Unit of the 12 de Octubre Hospital to serve as examples for our evaluation in plain text. After methodically introducing each of the examples in genoDraw, we then compared our results with the recommended results also given by the experts. During this evaluation phase, we detected some issues regarding the correctness of the tool and solved them.

An example of one of the validation cases is the following: A couple is formed by a man ( A ) and a woman ( B ). The woman is affected by retinoschisis in its X-linked recessive variant (OMIM code #312700) and has had, with the same man ( A ) with whom she forms a couple, one son ( C ) also affected by the disease, and is pregnant with a child ( D ). She has a brother ( E ) who is also affected and a sister ( F ) who is not. Her father ( G ) is also affected by the same disease and is married to his cousin ( H ), who is the mother of B, E and F . Our result for this example is shown in Figure 5 . Having a representation generated from a case such as the example described, a specialist is able to visualize the family, assessing the risk of the child in pregnancy being affected by the disease, as well as identifying other family members who might be, for example, carriers of the disease.

Pedigree represented by genoDraw for one of the examples used during the validation of the tool.

The purpose behind genoDraw is to provide genetics specialists with a tool to address their needs. In this work, we identified these needs as five characteristics the tool must possess, and designed a tool that provides the resources necessary to create, manage and visualize pedigrees via its ability to provide solutions for each of the five characteristics.

genoDraw is a tool intended to be used in clinical practice by medical specialists in the area of genetics. For this reason, we carried out a thorough evaluation of our tool, focusing not only on its correctness, but also on its ease of use. With genoDraw’s current capabilities, a specialist can insert information during a medical encounter and observe specific characteristics of the family of the patient. This is undoubtedly an advantage of any pedigree representation, even when sketched on paper. However, since the pedigree diagrams in genoDraw are generated automatically from the data inserted, the user does not need to plan which entities should be drawn. That way, the composition of a pedigree diagram is as easy as a step-by-step insertion of information. Additionally, since the arrangement of the diagram is done automatically, no planning of where each entity should be drawn is needed. Thus, according to our observations, genoDraw is capable of enabling an improvement in clinical practice.

In terms of the limitations of our tool, some should be noted. The first is that, despite the fact that the representation engine is flexible, it is constrained by the bidimensionality of the canvas on which the diagram is drawn. Thus, issues such as the planarity of the graph being represented or the alignment impossibilities, described elsewhere 11 , are unavoidable. Another limitation is the algorithmic procedure used to arrange the nodes of the graph in the canvas. Although the generated graph is always correct according to the nomenclature with our additional described changes, the structure is defined by a process that does not consider factors such as the personal appreciation of the user, who might want a specific arrangement of the nodes. In this case, we present a solution by enabling the user to make changes to such positions so that the optimization process finds a new convergence around the new structure. Further enhancements improving the tool’s ability to adapt to the user’s preferences should enable the generation of better-arranged pedigree diagrams.

Additionally, the presented platform is currently capable of storing the individuals’ diseases and traits as terms from widely used biomedical vocabularies. Although this is a novel feature, it does not yet enable full integration of the system with other, currently used, systems. We intend now to expand the compatibility of our system towards the integration with the represented individuals’ electronic medical records. This could make of our system a tool that retrieves, updates and uses other relevant information stored in these records to enhance and facilitate the risk assessment and diagnosis of genetic diseases. A future development in this direction will be the expansion of the system with the capability of generating clinical messages that can be stored in clinical environments, thus integrating the tool with other currently used clinical data storage systems.

When compared to other tools that serve the same purpose, we believe genoDraw is uniquely suited. In terms of comprehensiveness, our tool is the only system reported in the literature that complies with all the directives established in the updated version of the Standardized Human Pedigree Nomenclature 1 . In this regard, the flexibility of our model is key to this characteristic. Another solution 11 , for example, considers that every individual is child of a relationship, not being flexible enough to register that one’s biological parents might not have any relationship, such as in the case of sperm donations. As far as interactivity is concerned, our solution for arranging and moving the entities of the pedigree on the canvas enables the user to interact with the diagram without rendering it incorrect. According to our observations, this is superior to other solutions proposed. In GenoPro 9 and in the online version of Progeny 8 , for example, the structure of the pedigree can be voided by moving nodes. In terms of compatibility with biomedical vocabularies, to our knowledge, genoDraw is the only tool that enables the annotation of diseases as terms from biomedical vocabularies. Lastly, the automation and data-drivenness provided by genoDraw are enough to generate a plausible pedigree diagram for all situations, while other tools that generate pedigree diagrams from data tend to present various limitations in this regard.

In this work, we present genoDraw, a platform for representing, creating and managing pedigree diagrams, which is built around five characteristics that we identified as necessary for the next generation of such tools. The central module of this platform is a representation engine, which is capable of deriving a pedigree diagram from structured data. In order to integrate the system with other medical resources, our implementation is also compatible with annotations of diseases and other traits as terms from widely adopted biomedical vocabularies, in our case SNOMED-CT, OMIM and HPO. Depending on licensing aspects, the selection of available vocabularies can be changed, and many vocabularies are compatible with genoDraw. Our system supports the visualization and creation of pedigree diagrams from and to structured information that can come to be stored in medical information management systems, and the diagrams are generated following the Standardized Human Pedigree Nomenclature in its updated version. Thus, genoDraw is a tool that can improve the current practice of sketching pedigrees on paper by providing genetics specialists with useful computing capabilities that include the ability to conveniently input information during a medical encounter, the fact that this input data is kept as structured data that can be used to update the information of patients, as well as the ability to share internal graph files with other health professionals in order to provide a better, more precise treatment.

In the near future, we intend to integrate genoDraw into the day-to-day workflow of specialists in genetics and other areas for the assessment of the genetic component of various illnesses in patients. In terms of its use in research, we envision genoDraw as being a tool with the potential to support data collection of individuals and their families.

Acknowledgment

This work is supported by “Proyecto colaborativo de integración de datos genómicos (CICLOGEN)” PI17/01561 funded by the Carlos III Health Institute from the Spanish National plan for Scientific and Technical Research and Innovation 2017-2020 and the European Regional Development Funds (FEDER).

Figures & Table

How to make a kinship diagram

Reading time: about 5 min

There are many ways to define “family.” The dictionary offers a few suggestions, including “a group of individuals living under one roof and usually under one head” and “a group of persons of common ancestry.” Princess Diana famously said, “Family is the most important thing in the world,” and if you have seen Lilo & Stitch recently, you know that “family” means that no one gets left behind or forgotten.

For those wishing to further explore the dynamics between family members, from individuals who’d like to better understand their heritage to anthropologists who study the norms and values of various societies, a kinship diagram could come in handy. Read on to learn how to make a kinship diagram. 

What is a kinship diagram?

Kinship diagram symbols.

Before you get started, you’ll need to know the language of kinship diagrams. All kinship charts use the same basic symbols, shown below, to represent individuals and social organizations. Don’t get this confused with family tree symbols, which look similar but hold different meanings than kinship diagram symbols.

Marriage and cohabitation

How to make kinship diagrams.

Once you’ve got the symbols down, it’s simple to create your kinship diagram online, especially in an intuitive, collaborative platform like Lucidchart. To avoid starting from scratch, check out our kinship diagram template .

1. Add Ego to the center of your page

Designate one individual, identified as Ego, as the starting point of your kinship diagram. Most kinship diagrams use a different color or style to highlight Ego. For example, in our template above, Ego is the only symbol filled in with color.

2. Add Ego’s kin

Using the kinship chart symbols described above, add in the relationships that you’d like to visualize. Record Ego’s parents and ancestors above Ego, Ego’s siblings at the same level as Ego, and Ego’s children and descendants below Ego.

If you’re using Lucidchart, the majority of shapes you need are available in our flowchart and shape libraries to the left of the editor. You can also copy and paste special characters (such as the non-equal sign) from the Internet or your word processor.

3. (Optional) Change colors or style based on descent rules

Though you can stop there, you might want to customize your kinship diagram a bit further to explain the culture you’re diagramming. For example, you could track descent rules, or the cultural recognition of children as kin. Cultures generally follow one or two decent systems:

• Bilateral descent system: Considers both sides of the family as relatives.
• Ambilineal descent system: Requires children to choose either the mother’s or father’s side of the family to consider relatives.
• Patrilineal descent system: Recognizes the father’s line as relatives.
• Matrilineal descent system: Recognizes the father’s line as relatives.

On your kinship diagram, you can use different colors to show the paternal or maternal family lines to clarify these social relationships.

4. (Optional) Write out relationships

If your kinship diagram has become too extensive, or if you want to make familial relationships 100% clear, you can add a tag below each shape to show its relationship to Ego. Some kinship charts use shorthand for common terms, such as “M” for mother and “B” for brother.

Get started with a kinship chart template

Whether you’re charting out your own lineage or attempting to trace historical families, it's easy to create your own kinship diagram. Save time when you use a kinship diagram template or family tree template in Lucidchart. Our intuitive platform offers plenty of options to customize your diagram just the way you want it.

Explore how Lucidchart’s intelligent diagramming capabilities can supercharge your workflow.

Lucidchart, a cloud-based intelligent diagramming application, is a core component of Lucid Software's Visual Collaboration Suite. This intuitive, cloud-based solution empowers teams to collaborate in real-time to build flowcharts, mockups, UML diagrams, customer journey maps, and more. Lucidchart propels teams forward to build the future faster. Lucid is proud to serve top businesses around the world, including customers such as Google, GE, and NBC Universal, and 99% of the Fortune 500. Lucid partners with industry leaders, including Google, Atlassian, and Microsoft. Since its founding, Lucid has received numerous awards for its products, business, and workplace culture. For more information, visit lucidchart.com.

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Whether you are a new diagrammer, a power user, or someone who is eager to learn about Lucidchart, check out these six tips from Lucidchart product experts to learn how to diagram more efficiently.

Want to gain some insight into who you are and where you come from? Create a family tree to record the people, places, and events that make up your family history. Learn how to make a family tree chart in a few easy steps.

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The trick to taking the fear out of science is helping students find the science in their daily lives.

Science is the reason why we add salt to the roads when snow is in the forecast.  It’s the reason why the arrival of cold temperatures coincides with low tire pressure in our cars . Science explains why salt dissolves in room temperature water while sugar doesn’t and is even the reason why some people sneeze when going outdoors from a dark room on a sunshiny day. 

Anytime you can help students relate science to things they understand and care about, you remove one more barrier to learning.

Take learning about DNA and genetics, for instance.  What good is it if a student understands how DNA base pairing works and can recite all of the steps of mitosis if they never understand how DNA relates to their daily lives?

The solution?  Help them understand how DNA has shaped their family by constructing a family pedigree. 

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What is a Pedigree?

While a pedigree may resemble a simple family tree, it contains more information.  Specifically, a pedigree allows you to track how a particular genetic trait has been passed down through several family generations.

Scientists use pedigrees to study how certain genetic traits are inherited, and to predict how a trait may be passed on to future generations.

The really cool thing about a pedigree is that it is a tool that allows you to use an individual’s phenotype—the outward expression of a trait, to determine that individual’s genotype—what genes they possess.

What do I mean by that?  Let me explain.

You already know that, for the most part, your observable traits are controlled by your genes .  Often, more than one allele exists for a given gene. When more than one allele for a gene exists, one allele will be dominant over other alleles.  

This is the case with eye color*.  

What color eyes do you have?  Brown? Blue? Green? Hazel? Your eye color is your phenotype—the outward expression of the genes you possess for eye color.  The actual genes you possess is known as your genotype.

The allele for brown eyes (which we will designate B) is dominant over the allele for blue eyes (which we will designate b).  Since we have two copies of every gene (one copy inherited from each parent during conception), we have two possible alleles for eye color.  

A person with two copies of the brown eye allele (BB) will have brown eyes, while a person with two copies of the blue eye allele (bb) will have blue eyes.  What color eyes will a person with one brown eye allele and one blue eye allele have (Bb)? They will have brown eyes. Why? Because having just a single copy of the dominant brown eye allele will mask expression from the recessive blue eye allele.

In this example, there are two different eye color phenotypes:  blue and brown. But there are three possible genotypes (BB, Bb, bb).

While it is possible with commercial DNA testing kits to determine your genotype, you may be able to determine what genotype you and your family members have based on your phenotypes using a pedigree.

How to Construct a Family Pedigree

Choose a trait.

There are many traits you could choose to construct your pedigree, and a lot will depend on your particular family.  

For instance, in my family, we have left-handed relatives on my side as well as my husband’s side.  The fact that my husband, my younger son, and I are all right-handed while my older son is left-handed made this trait an interesting one to investigate.

You’ll want to choose a trait that is readily-observable (or easily testable, like the ability to taste PTC ).  Traits like eye color or the presence of a cleft chin can be ascertained from pictures, so choosing these traits would allow you to include family members who are far away (or even those who have passed away).  

The more family members you are able to include, the more thorough your pedigree will be and the more information you will be able to glean from it. 

Collect Your Information

After you’ve chosen what trait to study, your next step is to make a list of all of the family members you wish to include in your pedigree.  In addition to yourself, you’ll want to include your parents and siblings. You can also include grandparents, aunts, uncles, and cousins. If you’re really ambitious, you can include great-grandparents, great aunts and uncles, second cousins, etc.

Next, determine which version of the trait you’ve chosen that each family member in your list has.  For example, when I made my pedigree to trace how the gene for left-handedness was passed down through my family, I created a table like this.

Constructing Your Pedigree

While you are free to use whatever symbols you’d like, there are certain symbols that are universally used in pedigrees.  The beauty of using these symbols is that anyone can look at your pedigree and understand it.

Males are generally represented as squares and females with circles.  If a person displays the trait you have chosen, you will indicate that by coloring in the entire shape that represents them a solid color.  If the person doesn’t have that trait, you will leave their shape empty.

A horizontal line is used to indicate that two people are married, while a vertical line connects a child to his or her parents. 

Your next step is to begin drawing your pedigree on a blank piece of paper.  You might want to start with the symbol representing yourself. If you are part of the youngest generation that you will include in your pedigree  (i.e., you have no children, nieces, or nephews), you will probably want to place the symbol representing you towards the bottom center of your page. 

If you have brothers or sisters, draw their symbols beside you.  Once again, indicate whether or not they possess the trait you are tracking.  Remember to indicate that you are siblings using lines as shown in the figure of pedigree symbols above.

Next, add symbols for your parents above you, linked with lines as indicated in the above figure, and indicating whether or not they possess the trait.

Continue the process for the rest of the family members you wish to include.  

Here is the pedigree I constructed tracing left-handedness in my family.

From my pedigree, you can see that not only is my older son left-handed, but so is my father and my husband’s father.

This pedigree is based on my family’s phenotype: their outward expression.  But based on this pedigree, I can actually determine some facts about the genotype of some of my family members.

Using Your Pedigree to “See Inside” Your Genes

This initial pedigree, coupled with an understanding of genetics, allows me to make some assumptions.  

The allele for left-handedness (which I will designate r)  is recessive. Knowing that, I know that my older son must have two copies of the left-handedness allele (rr).  Why? If he had even a single copy of the dominant allele for right-handedness, he would be right-handed. (By the same token, I also know that my father and my husband’s father both had two copies of the left-handedness allele.)

But how did my older son get two copies of the left-handed allele?  After all, my husband and I are both right-handed.  

My husband and I both must carry a copy of both alleles: the dominant allele for right-handedness (R) as well as the recessive allele for left-handedness.  Even a single copy of the dominant allele for right-handedness is enough to mask expression of the recessive left-handed allele. But, while we are phenotypically right-handed, we were both able to pass down the gene for left-handedness to our son.  With two copies of the left-handed gene—one from me and one from my husband—my older son is left-handed.

And where did my husband and I get our copies of the left-handed gene allele?  Looking at the pedigree, we see that both of our fathers were left handed. Our fathers both passed on a copy of the recessive allele while our mothers both gave us a copy of the dominant allele for right-handedness.  Both my husband and I must have the genotype Rr. Our phenotype—our outward expression of the trait—is that we are right handed. But we both carry a hidden copy of the recessive allele for left-handedness. We are considered “carriers” of the left-handed allele.

Using this logic, we can actually fill in some more information on my pedigree.  I will indicate individuals who carry a hidden copy of the recessive left-handed allele by coloring in half of the shape that represents them.

You should see that I also designated my father’s parents as carriers of the left-handed allele.  Why? Because just like the case with my husband and me, the only way for two right-handed parents to produce a left-handed child is for them to carry a hidden copy of the left-handed allele (Rr).

It is possible that other members of my family have the carrier genotype too, but at this point, it’s impossible to know without more information.  

For instance, my younger son is right-handed.  There are two different genotypes that produce the right-handed phenotype: RR and Rr.  He could have inherited two copies of the dominant R allele, or he could have a single copy of the right-handed allele and a hidden copy of the recessive left-handed allele.  When he has children of his own (or even grandchildren), if any are left-handed, we will know that he is a carrier of the left-handed allele.

Genetic Traits You Could Use for a Family Pedigree

Depending on your family, there are many traits you could choose to construct your own pedigree.  Here are just a few:

Earlobe attachment

Do your earlobes attach directly to the side of your head (attached) or do they hang free (unattached, or free)?  Free earlobes is the dominant trait while attached earlobes are recessive.

Bent pinkies

Place your hands in front of you, palms up, with your two pinkies touching side to side.  If the tips of your pinkies bend away from each other, you have bent pinkies, the dominant trait. If they don’t bend away from each other, you have straight pinkies, the recessive trait.

Hitchhiker’s thumb

A strangely-named but easily determined trait is known as the hitchhiker’s thumb.  Observe your thumb as you give the “thumbs up” sign. If your thumb naturally bends back, you have hitchhiker’s thumb—a dominant trait.   If your thumb stays straight, you have the recessive trait.

Without thinking, clasp your hands in front of you.  Now look at your clasped hands. Which thumb is on top, your right thumb or your left?  Believe it or not, even this is determined by your genes! Clasping your hands with the left thumb on top is the dominant trait. However, if your right thumb was on top when you clasped your hands, you have the recessive trait.

Another observable genetic trait is the presence or absence of a cleft chin which appears as a small indentation. The cleft chin allele is dominant while a smooth chin is recessive.

Morton’s toe

I don’t know who Morton was, but he’s got a strange trait named after him.  If your “big” toe is shorter than your second toe, you have what is known as Morton’s toe, a dominant trait.  If your second toe is shorter than your “big” toe, you have the recessive trait. 

Widow’s peak

If your hairline comes to a point at the center of your forehead, you have what is known as a widow’s peak.  The presence of a widow’s peak is a dominant trait, while a straight hairline is a recessive trait.  

Sun sneezing

For some people, exposure to a bright light (like the sun) causes them to sneeze. Such individuals have been nicknamed “ sun sneezers ”.  The sun sneezing trait is dominant.

The ability to taste PTC

PTC (Phenylthiocarbamide) is a harmless chemical with a peculiar property:  depending on what genes a person has, PTC can taste vastly different. 

To some, PTC tastes extremely bitter. To others, PTC has no discernible taste at all. Other individuals describe the taste of PTC as mildly bitter.  The ability to taste PTC is a dominant trait, while the inability to taste PTC is recessive. Interestingly, people with a copy of both alleles have an intermediate phenotype:  to them, PTC tastes only mildly bitter. Learn more about the genetics of PTC here .

Other Ideas

If color-blindness or dyslexia run in your family, you could create a pedigree to trace these traits. You could also construct a pedigree of blood types (A+, O-, etc.). Of course, using these traits will require a bit more research on your part since the phenotypes associated with these traits can’t be determined by outward examination.

Creating a family pedigree is a great way to make DNA expression and genetics come alive for students. It’s just one way to take the fear out of science, and to demonstrate that science isn’t just something in a textbook.

Science is everywhere.

If your students want a better understanding of DNA and how it governs observable traits like the ones we’ve just discussed, check out my self-paced, online classes.

In DNA: The Alphabet of Life , I cover the basics of DNA structure and function, and describe how genes are expressed through the processes of transcription and translation. I also explain how DNA mutations occur, and how they can lead to diseases such as sickle cell anemia, cystic fibrosis, Tay-Sachs disease, and cancer. Hands-on activities, videos, and instructions for experiments are included.

In Genetics and Heredity , we explore how DNA is manifested as observable traits. Students learn the principles of Mendelian Genetics and learn how to use Punnett Squares to predict the outcome of genetic crosses. I also explain the other forms of inheritance, including sex-linked traits, the inheritance of mitochondrial DNA, incomplete dominance, codominance, and polygenic inheritance. A wealth of activities are included to give students opportunities for hands-on learning. Many examples of real-world genetics are given, including the genetics of calico cats, human blood types, cystic fibrosis, color blindness, and more.

DNA expression, gene alleles, and heredity is something we study in my live, online biology class . If you’re looking for a fun, engaging science class for your high schooler that includes many opportunities for hands-on exploration, check out what I have to offer: High School Science Classes Taught by Dr. Kristin Moon

*This is an oversimplified explanation of how eye color is determined. The genetics of eye color are explored more thoroughly in Genetics and Heredity .

* *As an affiliate for Amazon and Home Science Tools, I may earn a commission if you use my affiliate link to make a purchase. This doesn’t affect your price in any way, but helps me with the cost of maintaining my website so that I may continue to share resources to help you understand, teach, and love science.

4 thoughts on “Exploring Genetics by Creating a Family Pedigree”

I absolutely love this idea! I am totally going to do this with my family. Thank you for such a great resource! I will keep you posted on how it goes.

I can’t wait to hear if you discover anything interesting! I love being able to “see inside” my genes!

I am adding this to my plans for next school year. I love how you have put everything I need to teach this right in one spot. Thank you it is such a life save.

I know you’ll enjoy doing this activity! If you make any neat discoveries, come back and let me know!

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Genetics Project - Design a Species

Objective: Genetics follows certain rules, as illustrated by punnet squares, principles of dominance and recessiveness, and rules related to the location of alleles on the chromosomes. In animals, such as mouse, certain traits are expressed in predictable ways. In this project, you are going to design your own imaginary species, and create traits for the species that follow genetic rules that you have already studied.

• 2 Single-allele traits
• 1 Codominant trait (or incomplete dominance)
• 1 Multiple allele trait
• 1 Sex linked trait

Your final project should have the following elements:

1. Describe or sketch each of the traits from the list, listing genotypes and phenotypes for each.

Partial sketches are fine in this case.

2. Sketch two examples of your creature – one male and one female. The two examples must have different genotypes.

Each sketch should have the genotype listed for all traits.

3. Pick one of your single allele traits and create a sample pedigree for your creature.

The pedigree should include at least 4 generations.

4. Show a dihybrid cross (using your 2 single allele traits—ex: AaBb x AaBb)

List the phenotypic ratios.

5. Create 5 practice problems, using any of the traits.

These should be word problems. Do not just write Aa x Aa.

Image Credit: Emily Ratkewizc, 2011

making a pedigree

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4.4: Practice - Pedigrees

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Autosomal recessive trait

Query \(\PageIndex{1}\)

• Because the trait we are tracking (attached earlobes) is autosomal recessive, shaded individuals, like III-6, will have a homozygous recessive genotype ( ee ).
• If III-6 ( ee ) were to have a child with a man who was homozygous for unattached earlobes ( EE ), then all of the children would be heterozygous - getting one E from their father and one e from their mother. Attached earlobes is a recessive trait and will only occur in ee genotypes. Heterozygotes ( Ee ) will have unattached earlobes, as that is the dominant condition.
• The correct answer is All of their children would have unattached earlobes.

Query \(\PageIndex{2}\)

• Because the trait we are tracking (attached earlobes) is autosomal recessive, shaded individuals, like I-2, will have a homozygous recessive genotype ( ee ). I-1 must have a heterozygous genotype because he is able to pass on a recessive allele to some of his offspring (II-2 and II-4).

Only offspring with ee genotypes will have attached earlobes (2/4 boxes). \(2\div 4=0.5=50\%\)

• The correct answer is 50%

Query \(\PageIndex{3}\)

• Individual I-1 is represented by a non-shaded square, indicating that it is a male with unattached earlobes.
• Because the trait we are tracking, attached earlobes, is autosomal recessive, shaded individuals will have a homozygous recessive genotype ( ee ). Individuals that are non-shaded will have at least one E allele.
• I-1 has children with attached earlobes (II-2 and II-4 are ee ), meaning he must be able to pass on at least e allele. However, he shows the dominant condition, so he must also have one E allele. Therefore, his genotype is Ee .
• The correct answer is Ee

Query \(\PageIndex{4}\)

• Individual II-3 is represented by a non-shaded square, indicating that it is a male with unattached earlobes.
• II-3 has a mother with attached earlobes ( ee ), meaning he must get one e allele from her. However, he shows the dominant condition, so he must also have one E allele. Therefore, his genotype is Ee .

X-linked recessive trait

Query \(\PageIndex{5}\)

• Individual I-2 is represented by a shaded circle, indicating that it is an affected female. Therefore, she must have a homozygous recessive genotype of \(\text{X}^{d}\text{X}^{d}\).
• Because males always get their \(\text{X}\) chromosome from their mother, all of the sons that individual 2 has will receive a recessive \(\text{X}^{d}\) allele. Males will also receive their \(\text{Y}\) chromosome from their father, giving any son of individuals I-1 and I-2 a genotype of \(\text{X}^{d}\text{Y}\).
• The correct answer is 100%

Query \(\PageIndex{6}\)

• Unaffected males, such as individual II-1 have a genotype of \(\text{X}^{D}\text{Y}\). On the other hand, affected males, such as individual II-3, have a genotype of \(\text{X}^{d}\text{Y}\). Since males only have one \(\text{X}\) chromosome, they cannot be carriers.
• Individuals II-4 and II-5 are both shaded in, indicating that they are affected. In order to be affected, they must have the recessive genotypes \(\text{X}^{d}\text{Y}\) and \(\text{X}^{d}\text{X}^{d}\). This means that any child they have will have DMD because each parent can only pass on a recessive DMD allele.
• Individual III-1 is an unaffected male, meaning that he has a genotype of \(\text{X}^{D}\text{Y}\). If he mates with an unaffected, non-carrier female (\(\text{X}^{D}\text{X}^{D}\)), there is no chance that the children will inherit the DMD allele.
• The correct answer is If individual III-1 marries an unaffected, non-carrier female, none of their offspring will have DMD.

Query \(\PageIndex{7}\)

• Individual II-2 is represented by a non-shaded circle, indicating that it is an unaffected female.
• In order for individual II-2 to have a normal phenotype, but also produce an affected son, she must be a carrier for DMD. This means that she has one of each allele, \(\text{X}^{D}\text{X}^{d}\).
• The correct answer is \(\text{X}^{D}\text{X}^{d}\)

Query \(\PageIndex{8}\)

• In order for a daughter to be affected, her genotype must be \(\text{X}^{d}\text{X}^{d}\). Only one box has this genotype, so the chances of having an affected daughter is: \(\dfrac{1}{4}=25\%\)
• The correct answer is 25%

Autosomal dominant trait

Query \(\PageIndex{9}\)

• Because the trait we are tracking, dimples, is autosomal dominant, any shaded individuals will have at least one dominant allele ( D ). Any unshaded individuals will have the recessive genotype ( dd ).
• II-2 has dimples, meaning she must have at least one D allele. In addition, she has a recessive parent, and one of her children has no dimples ( dd ), so she must also have at least one d allele. This makes her genotype Dd . Individual II-1 has no dimples, meaning that he must have a homozygous recessive genotype ( dd ).

Only offspring with a D allele will have dimples (2/4 boxes). \(2\div 4=50\%\)

Query \(\PageIndex{10}\)

• Phenotype is the physical characteristic that we see (ex: dimples).  A genotype is the allele combination (ex: DD)
• Because the trait we are tracking is having dimples, shaded individuals, like III-4, have dimples. Unshaded individuals, like III-1, do not have dimples.
• The correct answer is Dimples

Query \(\PageIndex{11}\)

• The trait that we are tracking, dimples, appears to be dominant, as all offspring who have the trait have an affected parent. Having dimples also does not skip a generation, which suggests that it is likely dominant.
• Shaded individuals have dimples, meaning that they must have at least one D allele. Unshaded individuals, like I-1, do not have dimples, meaning that they must have the homozygous recessive genotype dd .
• An individual with dimples can be either DD or Dd . Individuals like II-2, II-3, and III-2 all have at least one recessive parent. Since the recessive parent can only donate a d , each of them must have a d in their genotype. Because they all have dimples, we know they must have one D allele as well, giving them all the genotype of Dd .
• The correct answer is III-2 → Dd

Query \(\PageIndex{12}\)

• Because the trait we are tracking (dimples) is autosomal dominant, any shaded individuals have at least one dominant allele ( D ). Any unshaded individuals have the recessive genotype ( dd ).

• Dimples is a dominant trait and will occur whenever a dominant allele is present in the genotype. Homozygous recessive individuals ( dd ) will have no dimples, as that is the recessive condition. Looking at the Punnett square, we find that \(\dfrac{3}{4}=75\%\) offspring will have at least one D allele.
• The correct answer is 75%

Contributors and Attributions

Khan Academy (CC BY-NC-SA 3.0; All Khan Academy content is available for free at www.khanacademy.org )

Classical Genetics Simulator

A web-based genetics lab, allowing students to apply lessons in Mendelian genetics to real-world scenarios.

Why use a computer simulation?

• Many generations of genetic inheritance can be studied more quickly than with live organisms
• Organisms do not need to be created or destroyed
• CGS is customizable and easy to use

Drosophila Vials

Investigate wild populations and trait linkage.

Arabidopsis Plants

Observe genotype and phenotype segregation patterns.

Chi Squared Statistics

Use statistics to support your findings.