ExAC…is a compendium of genetic information that…[is] so big that it is giving scientists a much more realistic vision of how we differ from each other genetically.
…
For doctors like [Robert] Green, [ExAC]’s proving valuable as a way to find false positives. He has had the pleasure of telling some of his patients that a genetic diagnosis they got years ago is no longer a cause for concern.
…
But a set of new papers…shows that false positives are just one of many things that it can illuminate. It is also helping scientists identify new genetic variants and understand secrets about the fundamental biology that we all share.
Share this article
…
The new study showed that broken genes are surprisingly common. Each ExAC volunteer had, on average, 85 genes in which one copy is broken…Different people had different broken genes…But when the ExAC researchers catalogued all the genes in ExAC, they found that 3,230 genes were almost never broken.
“These are genes you can’t mess with,” said Daniel MacArthur…
The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: We’re all different in our DNA. We’ve finally starting to understand when those differences matter
