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Article

Copy number alterations involving 59 ACMG-recommended secondary findings genes.

Clinical genetics - 1 Dec 2020

Yatsenko Svetlana A, Aarabi Mahmoud, Hu Jie, Surti Urvashi, Ortiz Damara, Madan-Khetarpal Suneeta, Saller Devereux N, Bellissimo Daniel, Rajkovic Aleksandar

Abstract excerpt

In clinical exome/genome sequencing, the American College of Medical Genetics and Genomics (ACMG) recommends reporting of secondary findings unrelated to a patient's phenotype when pathogenic single-nucleotide variants (SNVs) are observed in one of 59 genes associated with a life-threatening, medically actionable condition. Little is known about the incidence and sensitivity of chromosomal microarray analysis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33009833
DOI: 10.1111/cge.13852

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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