The 1000 Genomes Project Identifies Strategies to Count On

摘要

First, there were the individual human genomes, the "complete" sequences published in 2001. These provided a reference sequence against which variants could be compared to try and match mutations to medical malfunction. Then there were the genome-wide association studies (GWAS), which looked across thousands of individuals in search of genetic associations that weren't so clear cut. (See the January/February 2011 issue.) Now there is the 1000 Genomes Project, which adds additional power to GWAS and ushers in a new era of genome studies. Paper #4 presents the first results from the 1000 Genomes Project Consortium: a report on the project's pilot phase.