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Article

CNVfilteR: an R/Bioconductor package to identify false positives produced by germline NGS CNV detection tools.

Bioinformatics (Oxford, England) - 18 Nov 2021

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

Abstract excerpt

SUMMARY: Germline copy-number variants (CNVs) are relevant mutations for multiple genetics fields, such as the study of hereditary diseases. However, available benchmarks show that all next-generation sequencing (NGS) CNV calling tools produce false positives. We developed CNVfilteR, an R package that uses the single-nucleotide variant calls usually obtained in germline NGS pipelines to identify those false...

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Identifiers

PMID: 33983414
DOI: 10.1093/bioinformatics/btab356
PMCID: PMC9502136

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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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