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

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 fo...

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Veröffentlicht in:	Genetics in medicine 2022-03, Vol.24 (3), p.736-743
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	ACMG SF v3.0 ClinSeq Exome - genetics Exome Sequencing Genetic Variation - genetics Genomics Humans Mutation Reverse phenotyping Secondary findings Variant classification
Online-Zugang:	Volltext
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