News of the WeekGenomics

1000 Genomes Project Gives New Map of Genetic Diversity

Science  29 Oct 2010:
Vol. 330, Issue 6004, pp. 574-575
DOI: 10.1126/science.330.6004.574

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By sequencing hundreds of human genomes, the 1000 Genomes Project has produced the most detailed catalog of human variation ever: a compendium of millions of previously unknown single-nucleotide polymorphisms and other variants. This treasure chest of genetic data is described in the 28 October issue of Nature. Researchers are already using those data to pinpoint DNA involved in both complex and inherited diseases. Also, on page 641 of this week's issue of Science, a second analysis describes an approach for determining another aspect of genetic variation that arises when genes and other stretches of DNA are duplicated. There is growing interest in these so-called copy number variants because of their potential ties to disease risk.