fromgVCFToSignalIntensity: gVCF (WGS) to LRR/BAF conversion for CNV calling

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

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Authors: Mame Seynabou Diop
DOI: 10.5281/zenodo.18157129
Cited by: 0

Abstract

Perl script to convert gVCF files (WGS) into SNP-level metricsand Log R Ratio (LRR) / B Allele Frequency (BAF) signals for CNV callingwith PennCNV and QuantiSNP. This version supports GRCh38 only and excludes problematic genomicregions derived from UCSC annotations.

Publication details

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