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Article

PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American journal of human genetics - 5 Apr 2018

Verma Anurag, Lucas Anastasia, Verma Shefali S, Zhang Yu, Josyula Navya, Khan Anqa, Hartzel Dustin N, Lavage Daniel R, Leader Joseph, Ritchie Marylyn D, Pendergrass Sarah A

Abstract excerpt

Most phenome-wide association studies (PheWASs) to date have used a small to moderate number of SNPs for association with phenotypic data. We performed a large-scale single-cohort PheWAS, using electronic health record (EHR)-derived case-control status for 541 diagnoses using International Classification of Disease version 9 (ICD-9) codes and 25 median clinical laboratory measures. We calculated associations...

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Identifiers

PMID: 29606303
DOI: 10.1016/j.ajhg.2018.02.017
PMCID: PMC5985339

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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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