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New catalog of human genetic variation could improve diagnosis

Analysis of protein-coding DNA may help narrow which mutations really cause genetic diseases

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9:00am, November 15, 2015
DNA folds

DIVERSE DNA  A new database containing information about DNA variants in protein-coding genes of more than 60,000 people may be a valuable resource for finding the causes of genetic diseases.

A new catalog of human genes reveals that people have many different ways to build proteins. This listing of options can help doctors sort through mutations to learn which ones cause genetic diseases — and which ones don’t.

An international group of researchers banded together to compile the catalog, an inventory of the exome — the small portion of the human genome that produces proteins — of 60,706 adults from different populations around the world. Researchers in the Exome Aggregation Consortium, known as ExAC, report the findings online October 30 at bioRxiv.org.

“This is one of the most useful resources ever created for medical testing for genetic disorders,” says Heidi Rehm, a clinical lab director at Harvard Medical School who is not a member of the consortium.

A journal reviewing the work for publication prohibits the ExAC researchers from speaking with

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