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Lack of racial diversity in DNA databases spurs errors identifying disease-causing genes

| | October 19, 2016

The Exome Aggregation Consortium, or ExAC, is a simple idea. It combines sequences for the protein-coding region of the genome…allowing scientists to compare them and understand how variable they are. But the resource is having tremendous impacts in biomedical research.

Many disease-association studies…have identified mutations as pathogenic…but it’s possible that they weren’t looking hard enough, or in the right populations.

In August this year, [geneticist Daniel] MacArthur’s group published its analysis of ExAC data in Nature, revealing that many mutations thought to be harmful are probably not…

[Hugh] Watkins, [geneticist at the University of Oxford, UK,] checked the ExAC database for information on genes that have been associated with these heart conditions…about 60 genes had been implicated as harboring pathogenic mutations…[but his] analysis revealed that 40 of these probably bear no link.

Exac is quietly becoming a standard tool in medical genetics.

ExAC has also driven home a point that…other researchers have made repeatedly: that failing to include people from Asian, African, Latino and other non-European ancestries is holding back understanding of how genes influence disease by limiting the view of human genetic diversity.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: Failing to include people from Asian, African, Latino and other non-European ancestries in DNA databases is causing errors in identification of disease genes

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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