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Article

Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.

European journal of human genetics : EJHG - 1 Dec 2020

Moreno-Cabrera José Marcos, Del Valle Jesús, Castellanos Elisabeth, Feliubadaló Lidia, Pineda Marta, Brunet Joan, Serra Eduard, Capellà Gabriel, Lázaro Conxi, Gel Bernat

Abstract excerpt

Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim of this work is to evaluate CNV calling tools working on gene panel NGS data and their suitability as a screening step...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32561899
DOI: 10.1038/s41431-020-0675-z
PMCID: PMC7784926

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