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Article

The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022

Johnston Jennifer J, Brennan Marie-Luise, Radenbaugh Bailey, Yoo Seeley J, Hernandez Sophia M, Lewis Katie L, Katz Alexander E, Manolio Teri A, Biesecker Leslie G

Abstract excerpt

PURPOSE: The American College of Medical Genetics and Genomics (ACMG) recommends the return of pathogenic and likely pathogenic (P/LP) secondary findings from exome and genome sequencing. The latest version (ACMG secondary finding [SF] v3.0) includes 14 additional genes. We interrogated the ClinSeq cohort for variants in these genes to determine the additional yield in unselected individuals. METHODS: Exome data...

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Identifiers

PMID: 34906458
DOI: 10.1016/j.gim.2021.11.012
PMCID: PMC10120277

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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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