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Article

Multiple causal variants underlie genetic associations in humans.

Science (New York, N.Y.) - 18 Mar 2022

Abell Nathan S, DeGorter Marianne K, Gloudemans Michael J, Greenwald Emily, Smith Kevin S, He Zihuai, Montgomery Stephen B

Abstract excerpt

Associations between genetic variation and traits are often in noncoding regions with strong linkage disequilibrium (LD), where a single causal variant is assumed to underlie the association. We applied a massively parallel reporter assay (MPRA) to functionally evaluate genetic variants in high, local LD for independent cis-expression quantitative trait loci (eQTL). We found that 17.7% of eQTLs exhibit more than...

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Identifiers

PMID: 35298243
DOI: 10.1126/science.abj5117
PMCID: PMC9725108

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