STAT is featuring a wonderful series called the Game of Genomes.
In this series, Carl Zimmer, a journalist, had his full genome sequenced AND managed to obtain the BAM file – which is no small feat. If you want to know why, you’ll need to read the article where he describes this saga.
In order to have his full genome sequence analyzed, Carl hand delivered the hard drive that his BAM file arrived on to a team of scientists. Turning to several individuals at universities who used him as a case study, he is referenced as “Individual Z.”
Graduate students poured over his results, and then met with Carl to tell him what they found.
The great thing about this article is that, first, Carl writes about this extremely technical topic in a way that is understandable and interesting for normal air-breathing humans. No graduate degree required.
Second, and the part I find fascinating, is that Carl’s experience lets us peek beneath the hood into the underpinnings of the world of genomic sequencing along with giving us a periscopic view into the future.
Most people don’t realize we’re still on the frontier. Carl is on the very edge of that frontier.
You can read the series here. Keep scrolling for episodes – below the graphics. To date, 5 episodes have been published. At the end, you can sign up for the next episode.
Lastly, you can view the Supplemental Materials produced by the various labs here. Those are fascinating as well – but more technical in nature.
So, I have to ask…
How brave are you?
Carl was told that he had 3,559,137 “differences” when compared to the reference human genome. Difference = mutation. Some of those differences could be protective, some could be carriers of disease, meaning they don’t affect Carl but would affect a child if his wife also carried that mutation, some could be harmless, some could be disease producing, and some could be deadly.
These differences have the potential to represent the full range of outcomes – and along with the outcomes – the full range of emotional terror – from nothing to full blown panic attack.
Carl also has some “broken genes.” We all do. Mostly, they don’t matter…but some could, would and do. Carl’s apparently don’t – at least not much.
Would you want to know?
Would you want to know only if there was something that could be done?
Would this depress you or help you to plan your life more effectively?
Would this knowledge cause you anxiety or empower you? Maybe even inspire you?
Keep in mind that what we think we know today is often revised tomorrow – especially on the leading, sometimes bleeding, edge.
Read the article and share your thoughts.
Having worked on the leading edge of technology for 30+ years and genetic genealogy for 15+, I can tell you that I would jump at this opportunity in a heartbeat. I must carry two copies of the “incessant compulsion to learn” gene!