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.
Burning Questions
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!
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This knowledge is not really important to me as a 70ish person although I am very curious by nature. I am interested in knowing more, but am not interested in participating. But, I can see how this would have a broader appeal to a younger market.
Roberta, Have you gotten your Promeathese report? Have mine, but have only read part of it. A lot of data, and must consider the “good” and the “bad” and the net result… Interesting.
Yes, I have and like you, found it very interesting. I also did one for mother and it was even more interesting comparing mine to hers.
Thank you for sharing this. I found it very interesting to read and I don’t know how I would have come across it on my own.
Thanks so much for this post.Zimmer is a talented science writer and i’m looking forward to reading this.
Those who find this discussion interesting might enjoy reading the recent book “The Gene”. Written by Siddhartha Mukerjee, the author of “The Emperor of All Maladies”. It provides a fascinating journey into the world of the genetics, and the people involved in that journey.
Gene by Gene do the Whole Genome Sequencing, but at $10,395.00. I’ll wait for the price to drop down dramatically…
https://www.genebygene.com/pages/research
Although I’m not particularly interested in these risk factors, I already know which sickness run in the family.
That being said, I did pass my X-DNA in promethease, I wanted to know if I was carrier of colorblindness gene. I read an article about tetrachromacy and how females carrying only one colorblindness gene could be seeing a lot more colors than the average not colorblind people. I was driving myself craze looking gardening magazines versus live plants and trying to determinate if I saw more colors than the cameras and printers. DNA closed the debate, I’m the average trichromate (and my identical twin sister too, I guess). Which also mean, colors in magazines are so off. o.O
Beside I learned I’m weak against tuberculosis (I’ll just stay away from countries were the sickness still run), I have three genes associated with balding (that much was obvious just looking at my relatives, from both side of the family) and some medication for schizophrenia could have me gain 10 pounds… No schizophrenia in the family yet, so I should be all right.
How do you tell from the Promethease report whether you are trichromate or tetrachromate?
Don’t have a clue.
There are two possibilities. You are looking for two genes on the X chromosome, rs2315122 and rs2315123. Just type colorblindness in the promethease report search engine to find them rapidly.
rs2315122 is usually (A) for male and (A;A) for female. For colorblind people, it’s (G) for male and (G;G) for female. Possible tetrachromate people would have (A;G).
rs2315123 is usually (T) for male and (T;T) for female. For colorblind people, it’s (C) for male and (C;C) for female. Possible tetrachromate people would have (C;T).
You don’t need to have both rs2315122 (A;G) and rs2315123 (C;T), just one is enough. The logic is, since the tetrachromate women (and Klinefelter syndrome men) have both the normal and colorblind gene, roughly about half their cones should be colorblind while the other half would be normal. Which mean they should be seeing the world halfway between colorblind and normal people.
Plus, since they have blue cones, red cones, green cones and colorblind cones which should be closer to yellow, they should be better to asses colors than the regular people. I hope this answer your question.
I just purchased a “long read” full genome test. It really is cutting edge (It’s a beta) and I’m one of the first to be tested with this. I’m looking forward to what we learn over all from this test… Besids what it tells me personally.
Interesting. Mostly over my head but well written and I’m always interested in learning something new!