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Article

Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system.

Cell reports. Medicine - 21 May 2024

Forrest Iain S, Duffy Áine, Park Joshua K, Vy Ha My T, Pasquale Louis R, Nadkarni Girish N, Cho Judy H, Do Ron

Abstract excerpt

Population-based genomic screening may help diagnose individuals with disease-risk variants. Here, we perform a genome-first evaluation for nine disorders in 29,039 participants with linked exome sequences and electronic health records (EHRs). We identify 614 individuals with 303 pathogenic/likely pathogenic or predicted loss-of-function (P/LP/LoF) variants, yielding 644 observations; 487 observations (76%) lack...

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Identifiers

PMID: 38642551
DOI: 10.1016/j.xcrm.2024.101518
PMCID: PMC11148562

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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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