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Human genomics

A deep dive into genetic variation


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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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).

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