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NIH Program Releases 100K Whole Genomes Data

DNA analysis graphic

(Gerd Altmann, Pixabay)

18 Mar. 2022. A precision medicine research program at National Institutes of Health is releasing to scientists data for nearly 100,000 whole genome sequences. The All of Us initiative at NIH that collects the data says about half of the sequences represent racial and ethnic groups historically left out of genetic research.

The All of Us project seeks to gain better insights into biological, environmental, and behavioral factors that influence an individual’s health, taking into account a person’s lifestyle as well as their specific molecular makeup. All of Us is taking advantage of the wider availability and lower cost of genomic sequencing as well as expansion in the use of electronic medical records. As reported by Science & Enterprise in Jan. 2019, the initiative is recruiting one million participants to provide a wide range of personal health data, including from fitness devices.

The initiative is making the anonymous whole genome data available through its public researcher workbench. Whole genome sequencing, as the name implies, analyzes an individual’s almost entire genetic code. Most commercial genetic testing services sequence parts of the genome associated with ancestry or known diseases, called genotyping arrays. The research workbench, says NIH, also offers genotyping array data for some 165,000 individuals.

Supported by academic and industry labs

In addition, says NIH, the research workbench provides access to individuals’ electronic medical records, also with personal identifying information removed, to help researchers associate genomic factors with health outcomes. And the portal gives access to data from the American Community Survey, compiled by the U.S. Census Bureau. to associate health data with conditions in cities and towns.

Perhaps the most significant contribution of the new data release, says NIH, is the data’s ethnic and racial diversity, with about 50 percent of the genomes from people identifying as members of groups historically underrepresented in genetic research. “Until now, over 90 percent of participants from large genomics studies have been of European descent,” says All of Us CEO Josh Denny in an NIH statement. “The lack of diversity in research has hindered scientific discovery.” Denny adds that “Over time, as we expand our data and add new tools, this dataset will become an indispensable resource for health research.”

The All of Us program, including the research workbench, is supported by partners in academic and industry labs. The research workbench is managed by Vanderbilt University, with help from the Broad Institute of MIT and Harvard, and Verily Life Sciences, a division of Alphabet, the parent company of Google. The health technology company Color, in San Francisco, provides genetic analysis services for individuals providing specimens to All of Us.

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