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Thousands of human sequences provide deep insight into single genomes

A massive genome-sequencing and analysis effort has produced the most comprehensive sets of data and tools for understanding human genetic variation so far. The resource will be invaluable to biologists of every stripe.
  1. Deanna M. Church

    1. Deanna M. Church is at Inscripta, Boulder, Colorado 80301, USA.

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What do the differences between each person’s genetic code mean for their individual development and health? Several factors have hampered researchers’ ability to answer this question. First, understanding genetic variation requires analysing huge numbers of sequences, because we carry many rare variants1. Most of these have no effect, with just a few causing genetic diseases. Second, most of our understanding of genetic variation has come from studying single nucleotide variants (SNVs), but structural variants — more than 50 nucleotides long — can have a larger impact on physiological traits, and are major contributors to disease2. Third, we lack an understanding of variation outside protein-coding sequences. In four papers in Nature, the genome aggregation database (gnomAD) consortium3–6 sets out to address these gaps in knowledge.

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Nature 581, 385-386 (2020)

doi: https://doi.org/10.1038/d41586-020-01485-4

References

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Competing Interests

D.M.C. is employed by and a shareholder in Inscritpa, Inc.

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