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Article

The missing link between genetic association and regulatory function.

eLife - 14 Dec 2022

Connally Noah J, Nazeen Sumaiya, Lee Daniel, Shi Huwenbo, Stamatoyannopoulos John, Chun Sung, Cotsapas Chris, Cassa Christopher A, Sunyaev Shamil R

Abstract excerpt

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is widely assumed that such alleles exert small regulatory effects on the expression of cis-linked genes. However, despite the availability of gene expression and epigenomic datasets, few variant-to-gene links have emerged. It is unclear whether these sparse results are due to limitations in available data and methods, or...

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Source

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Identifiers

PMID: 36515579
DOI: 10.7554/eLife.74970
PMCID: PMC9842386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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