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Article

A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study.

PLoS genetics - 1 Aug 2020

Dong Xinyuan, Su Yu-Ru, Barfield Richard, Bien Stephanie A, He Qianchuan, Harrison Tabitha A, Huyghe Jeroen R, Keku Temitope O, Lindor Noralane M, Schafmayer Clemens, Chan Andrew T, Gruber Stephen B, Jenkins Mark A, Kooperberg Charles, Peters Ulrike, Hsu Li

Abstract excerpt

Genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with various phenotypes, but together they explain only a fraction of heritability, suggesting many variants have yet to be discovered. Recently it has been recognized that incorporating functional information of genetic variants can improve power for identifying novel loci. For example,...

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Identifiers

PMID: 32833970
DOI: 10.1371/journal.pgen.1008947
PMCID: PMC7470748

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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