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Article

A regression framework to uncover pleiotropy in large-scale electronic health record data.

Journal of the American Medical Informatics Association : JAMIA - 1 Oct 2019

Li Ruowang, Duan Rui, Kember Rachel L, Rader Daniel J, Damrauer Scott M, Moore Jason H, Chen Yong

Abstract excerpt

OBJECTIVE: Pleiotropy, where 1 genetic locus affects multiple phenotypes, can offer significant insights in understanding the complex genotype-phenotype relationship. Although individual genotype-phenotype associations have been thoroughly explored, seemingly unrelated phenotypes can be connected genetically through common pleiotropic loci or genes. However, current analyses of pleiotropy have been challenged by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31529123
DOI: 10.1093/jamia/ocz084
PMCID: PMC6748812

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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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