The first major paper from the project was published last week in Nature.
So now we supposed have 94% of human variable sites documented -- including the identification of many 'rare variants'.
An interest snippet from the Nature News article:
"results of the survey revealed, with each person's genome carrying some 250 or 300 so-called 'loss-of-function' mutations that incapacitate the gene in which they occur.
"That's quite a lot — it's on the order of 1% of all genes," says Richard Durbin, a genomicist at the Wellcome Trust Sanger Institute in Hinxton, UK, and one of the chief architects of the project."
No comments:
Post a Comment