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Article

The impact of rare variation on gene expression across tissues.

Nature - 11 Oct 2017

Li Xin, Kim Yungil, Tsang Emily K, Davis Joe R, Damani Farhan N, Chiang Colby, Hess Gaelen T, Zappala Zachary, Strober Benjamin J, Scott Alexandra J, Li Amy, Ganna Andrea, Bassik Michael C, Merker Jason D, Hall Ira M, Battle Alexis, Montgomery Stephen B

Abstract excerpt

Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not practical for identifying rare variants. Efforts to distinguish pathogenic variants from benign rare variants have leveraged the genetic code to identify deleterious...

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Identifiers

PMID: 29022581
DOI: 10.1038/nature24267
PMCID: PMC5877409

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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