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Article

Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2021

Schiabor Barrett Kelly M, Bolze Alexandre, Ni Yunyun, White Simon, Isaksson Magnus, Sharma Lavania, Levin Elissa, Lee William, Grzymski Joseph J, Lu James T, Washington Nicole L, Cirulli Elizabeth T

Abstract excerpt

PURPOSE: To identify conditions that are candidates for population genetic screening based on population prevalence, penetrance of rare variants, and actionability. METHODS: We analyzed exome and medical record data from >220,000 participants across two large population health cohorts with different demographics. We performed a gene-based collapsing analysis of rare variants to identify genes significantly...

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Identifiers

PMID: 34385667
DOI: 10.1038/s41436-021-01293-9
PMCID: PMC8629756

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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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