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Article

Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting.

European journal of medical genetics - 1 Dec 2017

Villela Darine, Costa Silvia Souza, Vianna-Morgante Angela M, Krepischi Ana C V, Rosenberg Carla

Abstract excerpt

We evaluated an approach to detect copy number variants (CNVs) and single nucleotide changes (SNVs), using a clinically focused exome panel complemented with a backbone and SNP probes that allows for genome-wide copy number changes and copy-neutral absence of heterozygosity (AOH) calls; this approach potentially substitutes the use of chromosomal microarray testing and sequencing into a single test. A panel of 16...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28882788
DOI: 10.1016/j.ejmg.2017.08.020

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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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