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To get the raw data, as I managed to do, is almost unheard of. I am, to my knowledge, the first journalist, to do so. So over the past several months, I enlisted Gerstein and two dozen other scientists to help me see whats lurking in my own genome. They have generously volunteered their time and expertise, acting like scuba diving guides, leading me through undersea canyons. The experience has revealed to me quite a lot about myself but also, more importantly, about human genomes in general, and the advances scientists are making in understanding them. What have I learned Ive used my genome to look back a million years to our pre human origins. Ive discovered exactly which pieces of DNA I inherited from Neanderthals and how they may influence my health. Ive learned that I have extra copies of some of my genes, and Im even missing vast chunks of DNA found in other people. Ive inspected the three dimensional shape of some of my proteins, observing how mutations have changed the way they work and made me vulnerable to some diseases. Perhaps just as importantly, Ive learned just how hard it remains for experts to make sense of anyones genome. Over the coming days, Ill be unspooling what Ive learned in a series of stories. Ill also introduce you to some of the countrys leading genomics experts, who are discovering remarkable things about our DNA. I hope you come along and see whats hiding in that hard drive. Episode 2 A code is brokenoon after I decided to get my genome sequenced, I found myself in a hospital in Boston, with a geneticist staring long and hard at my face. What Im doing is looking for any facial features that would suggest an underlying genetic illness, Dr. Robert Green told me, as he gave me an exam at Brigham and Womens Hospital. The shape of your eyes, whether your ears are low set or not. The complexity of your ears. 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We arranged for an exam, and now, having failed to find anything suspicious, Green ordered a blood draw. My blood was shipped from Boston to San Diego, where it was sequenced by Illumina. The process, including my registration at an Illumina sponsored seminar, cost 3,1. The Illumina team began the process by cracking open my blood cells and extracting their DNA. Download Driver Printer Epson Tx 200 Driver more. They cant just read the DNA from one end to the other. For starters, a human genome is so big that it would take too long. The DNA might also snap apart into pieces during the process. Instead, Illumina does something counterintuitive It smashes the DNA into lots of fragments, makes lots of copies of those fragments, reads them all, and then tries to put their sequences back together. To do so, they take advantage of DNAs own capacity to make copies of itself. Each DNA molecule is actually a pair of strands assembled from building blocks known as bases. The bases are like the alphabet in which our genes are written. Instead of our 2. DNA A for adenine, T for thymine, C for cytosine, and G for guanine. When our cells divide, they build a new copy of their DNA. They do so by splitting the old molecule into its two strands, and then building a new strand for each one. This process is remarkably simple. Each base can only pair with one other base A with T, C with G. To read my DNA, Illumina mimicked this chemistry. First, the Illumina team broke my DNA into short fragments, each about 3. Then they made extra copies of those fragments, so they could sequence each one many times over. To do so, they glued the fragments to a plate, which they then submerged in a bath. In that bath were free floating bases. Gradually, those bases locked onto the fragments, creating a corresponding strand. And each time a floating base locked onto a fragment, Illuminas devices could record the reaction. A computer recorded those reactions, and used them to decipher the sequence of each of the original strands. A team of researchers at Illumina then reviewed the data, evaluating my risk for 1,2. Dont be fooled Cherubism doesnt make you look like an angel. It fills your jaw with cysts. I couldnt help but worry about what they might find. As I approach my 5. I feel lucky to be in pretty good health, yet I wonder what the next few decades have in store for me. On my fathers side, my grandfather died in his 4. My mothers family has been more fortunate my grandfather lived to 8. How, I wondered, did I do in the genetic lotteryA few weeks after my visit to Brigham and Womens, I got a call from Sheila Sutti, a genetic counselor who works with Green. She had my results back from Illumina. The reason were doing this over the phone and not in person is that we didnt find anything of clinical importance, she said. You had a very benign report, Carl. Illumina found that I might not respond well to certain medications, but didnt find any firm evidence that I suffered from a genetic disorder.