Rare genetic variants are changes in DNA that are carried only by relatively few people in a population. The UK10K study was designed to explore the contribution of these rare genetic variants to human disease and its risk factors. The largest population genome sequencing effort to date has been published.
http://www.sciencedaily.com/releases/2015/09/150914114530.htm
10K genomes project explores contribution of rare variants to human disease, risk factors
14 septiembre 2015
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