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All of Us releases genome sequences for 245,388 participants

Diagrams and charts summarising participant data and research resources in the All of Us programme.
Figure 1: The All of Us Research Program Genomics Investigators. Genomic data in the All of Us Research Program. Nature (2024).Image licenceFull-size image

The All of Us Research Program has released clinical grade whole genome sequence data from 245,388 participants, according to a study published in Nature. Researchers found more than one billion genetic variants in the dataset, including over 275 million that had not been reported before. Of the participants, 77 percent came from communities historically under-represented in biomedical research, and 46 percent were from under-represented racial and ethnic minorities. By linking the genomic data to participants' electronic health records, the team evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across participants of European and African ancestry.

A more diverse genomic dataset could help researchers understand disease risk across different ancestries more accurately.

Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].

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