Scientists released a new human ‘pangenome’ reference

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On May 10, 2023, researchers released a new high-quality collection of reference human genome sequences that captures substantially more diversity from different human populations than what was previously available. The work was led by the international Human Pangenome Reference Consortium, a group funded by the National Human Genome Research Institute.

The new ‘pangenome’ reference includes genome sequences of 47 people, with the researchers pursuing the goal of increasing that number to 350 by mid-2024. With each person carrying a paired set of chromosomes, the current reference actually includes 94 distinct genome sequences, with a goal of reaching 700 distinct genome sequences by the completion of the project. The work, appeared in the journal Nature, one of several papers published by consortium members.

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Source: National Institutes of Health
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