Who Am I? Working with Personal Genetic Data using Grapher and MapViewer

Humans are born with a natural curiosity about ourselves and the world in which we live. Much of our infancy and early childhood consists of consuming the environment surrounding us, our five senses providing much of the data. As we grow more and more self-aware, many of us begin to ponder where we as humans come from. As science and technology advance, archaeologists, geneticists, and other scientists come closer to answering this question definitively. These advances also allow individuals to begin to answer the question Where did I come from? by using increasingly popular personal genomics services. A few companies providing these services include AncestryDNA, 23andMe, and deCODE genetics.

Several years ago, my interest was piqued, and I purchased a testing kit from 23andMe. I received my kit in the mail, sent off a vial of my saliva, and waited anxiously for my results. I wasn’t sure if I was more excited to receive information about my ancestry or my genetic health risk data! After a few long weeks, I received my results and sifted through my information. 23andMe reports ancestry as the estimated composition of DNA from 31 populations in the world. The report also includes estimated percentage of Neanderthal DNA, haplogroup, potential health risks, likelihood of inherited traits, estimated response to certain drugs, and likelihood of other inherited conditions. In addition to analysis and estimations, 23andMe also gives you access to browse and download your raw genetic data.  When reviewing the analysis and risk estimates, it is important to keep in mind that this is just a snapshot of your DNA. Not all genetic markers are reported and analyzed, and other factors, such as environment and lifestyle, are not taken into account.

I was excited to see the results affirm physical traits, such as my brown eye color and curly hair, and I anxiously read my estimated risks for different cancers, deficiencies, and diseases. As I read about my elevated risk for type 2 diabetes, various liver problems, and certain cancers, I reminded myself that this isn’t the whole picture, but made a promise to myself to monitor my diet, exercise, and other controllable environmental and lifestyle factors. I plotted my risk against the average risk for various health conditions in Grapher 11 3D mapping software, and the results are below. The grey bar chart represents the average risk, and the colored pyramids represent my risk. The pyramids are colored according to whether my level of risk is elevated, typical, or decreased.

 Bar chart showing my risk and the average risk for various health conditions.

After poring over my health data, I was pleased to have learned more about who I am now, but I was still curious. Where did I come from? Excitedly, I clicked over to the ancestry section of my results. As a female, I’m not getting the whole story from my ancestry results either, as some of this genetic data is stored on the Y chromosome. In the future, I hope to have my brother or father complete a 23andMe DNA test and share results with me, so I can have a more complete look into my ancestry. I was not surprised to learn that the majority of my DNA is of European decent. I used a combination of Grapher 11 3D mapping software and MapViewer 8 mapping softwareto create a prism map and doughnut chart to visualize my ancestry results. I look forward to updating the map and chart with paternal information!

Prism map and doughnut plot showing ancestry composition.

Whether you’re interested in using genetic information as part of your healthcare plan, to help fill in your family tree, or to just satisfy your curiousity, genetic testing is a great way to learn more about who you are and where you come from.