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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

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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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Human genomics: The end of the start for population sequencing

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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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