Article

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics context

2019-11-22

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Motivation</h4> 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 with CN...

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Literature Corpus work: 5a12eee9-f2ee-56a3-8f15-612d2a57b24f
DOI: 10.1101/850958

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