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Article

Clinical exome performance for reporting secondary genetic findings.

Clinical chemistry - 1 Jan 2015

Park Jason Y, Clark Peter, Londin Eric, Sponziello Marialuisa, Kricka Larry J, Fortina Paolo

Abstract excerpt

BACKGROUND: Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genetics and Genomics (ACMG). However, the performance of clinical exome methods for reporting small subsets of genes has not been previously reported. METHODS: In this study, 57 exome data sets performed as clinical (n = 12) or research (n = 45) tests...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25414276
DOI: 10.1373/clinchem.2014.231456
PMCID: PMC4404496

Provenance

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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