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Human genomics

A deep dive into genetic variation

Nature volume 536, pages 277–278 (2016)Cite this article

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The exome is the portion of the genome that encodes proteins. Aggregation of 60,706 human exome sequences from 14 studies provides in-depth insight into genetic variation in humans. See Article p.285

Just seven years ago, my colleagues and I reported the protein-coding DNA sequences, called exomes, of 12 individuals1 — among the first to be produced with a new generation of sequencing technologies2. Exome sequencing is much less expensive than whole-genome sequencing and, for cancers and Mendelian disorders (the latter caused by mutations in single genes), there is much more disease-associated genetic variation in the exome than in the rest of the genome. On page 285, the Exome Aggregation Consortium (ExAC) and collaborators3 report the exome sequences of 60,706 individuals, collected from diverse studies: a venture 5,000 times larger than our initial study.

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Figure 1: Exome aggregation.

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References

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Authors and Affiliations

  1. Jay Shendure is in the Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA, and is an investigator of the Howard Hughes Medical Institute.,

    Jay Shendure

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  1. Jay Shendure
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Correspondence to Jay Shendure.

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The ExAC database is the largest collection of human protein-coding variation yet, providing scientific and clinical insight.

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Shendure, J. A deep dive into genetic variation. Nature 536, 277–278 (2016). https://doi.org/10.1038/536277a

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