JacquemontLab/CNV-Caller: v2.0

Zenodo (CERN European Organization for Nuclear Research) 2026 Open access

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Authors: Florian Bénitière, B. M. Clark, Sébastien Jacquemont
DOI: 10.5281/zenodo.18607246
Cited by: 0

Abstract

Release v2.0 This repository, maintained by our lab, provides a Nextflow pipeline for the discovery of copy number variants (CNVs) using Hidden Markov Model based CNV callers PennCNV and QuantiSNP. The pipeline utilizes B-Allele Frequency (BAF) and the Log-R Ratio (LRR) of probes on a standard genotyping array to call CNVs.

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Phylogenetic Studies Genomics and Rare Diseases

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
23 January 2026
Language
EN