“What does one do with a genome sequence?” is a question I get asked a lot.
These are still very early days…it’s not clear there’s a consistently good answer yet. That said, people can consult various databases in order to see what alleles they carry that predispose them to what sorts of traits: male-pattern baldness, response to various drugs, certain types of cancer, etc. These are all probabilistic in nature of course and often do not jibe with one’s phenotype. For example I carry an allele that suggests I am likely to be 1-2 cm taller than average. If only…
But my expectations for my genome were low: we are still amassing genomes and trying to understand them at a gross level and in aggregate. This is what people like my colleague David Goldstein and his research team are doing, as they show in a new paper. We often say that at the genetic level we are about 99.5% identical with every other human on the planet (on average). But we are still counting the differences and we are still seeing tons of DNA variants that have never been seen before. Ever. Thus, when David’s group sequenced 20 individuals (including me), it found, on average, well over 100,000 variants that were unique to each person (the number was initially much higher, but fell and stabilized as more genomes were completed). Thus, in this current crop of genomes, about 1/8 of the variation has never been observed. We have millions of years of reading to catch up on.
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