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Article

Inclusion bias affects common variant discovery and replication in a health-system linked biobank.

American journal of human genetics - 2 Apr 2026

Pimplaskar Aditya, Qiu Junqiong, Lapinska Sandra, Tozzo Veronica, Chiang Jeffrey N, Pasaniuc Bogdan, Olde Loohuis Loes M

Abstract excerpt

Electronic health record (EHR)-linked biobanks hold promise for precision medicine by enabling association studies between genetic variants and clinical phenotypes for individual risk assessment. However, most biobanks use opt-in consent protocols to recruit individuals interacting with healthcare systems. This strategy may lead to both participation and recruitment bias, the effects of which on genetic analyses...

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Identifiers

PMID: 41812654
DOI: 10.1016/j.ajhg.2026.02.011
PMCID: PMC13087405

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PPARG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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