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Article

Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer.

Journal of medical genetics - 1 Jan 2022

Moreno-Cabrera José Marcos, Del Valle Jesús, Feliubadaló Lidia, Pineda Marta, González Sara, Campos Olga, Cuesta Raquel, Brunet Joan, Serra Eduard, Capellà Gabriel, Gel Bernat, Lázaro Conxi

Abstract excerpt

INTRODUCTION: Germline CNVs are important contributors to hereditary cancer. In genetic diagnostics, multiplex ligation-dependent probe amplification (MLPA) is commonly used to identify them. However, MLPA is time-consuming and expensive if applied to many genes, hence many routine laboratories test only a subset of genes of interest. METHODS AND RESULTS: We evaluated a next-generation sequencing (NGS)-based CNV...

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Identifiers

PMID: 33219106
DOI: 10.1136/jmedgenet-2020-107366

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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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