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Article

The phenotype-genotype reference map: Improving biobank data science through replication.

American journal of human genetics - 7 Sept 2023

Bastarache Lisa, Delozier Sarah, Pandit Anita, He Jing, Lewis Adam, Annis Aubrey C, LeFaive Jonathon, Denny Joshua C, Carroll Robert J, Altman Russ B, Hughey Jacob J, Zawistowski Matthew, Peterson Josh F

Abstract excerpt

Population-scale biobanks linked to electronic health record data provide vast opportunities to extend our knowledge of human genetics and discover new phenotype-genotype associations. Given their dense phenotype data, biobanks can also facilitate replication studies on a phenome-wide scale. Here, we introduce the phenotype-genotype reference map (PGRM), a set of 5,879 genetic associations from 523 GWAS...

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Identifiers

PMID: 37607538
DOI: 10.1016/j.ajhg.2023.07.012
PMCID: PMC10502848

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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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