The Human Pangenome Reference Consortium has released a new high-quality collection of reference human genome sequences that includes genome sequences of 47 people, with the the goal of increasing that number to 350 by mid-2024.
Human pangenome
Nature
Volume 617 Issue 7960, 11 May 2023
The cover shows the pangenome wrapping a globe and uses a sequence tube map rendering of a pangenome graph relating ten haplotypes within the highly variable HLA-A locus on chromosome 6 created by Adam Novak at the University of California, Santa Cruz.
Cover image: Darryl Leja/NHGRI
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Infographic: Why do we need a new human pangenome reference?
The original human genome reference sequence was generated by the Human Genome Project in 2003. While this reference sequence has been regularly updated as researchers fixed errors and filled in missing regions of the genome, it only reflected data generated from about 20 people. Most of that first human genome reference sequence was just from one person. The previous human genome reference sequence is only 92% complete, with an estimated 8% of the human genome missing because of gaps in the sequence. The new human pangenome reference is more comprehensive and incorporates the missing 8% of the human genome sequence, adding over 100 million new bases.
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Last updated: May 15, 2023