This Galaxy workflow streamlines comprehensive copy number variation (CNV) analysis by integrating CNVkit’s robust detection capabilities with an efficient conversion step using cnv-vcf2json to format results into Beacon JSON. Designed for computational biologists and bioinformaticians, the workflow standardizes CNV identification and output formatting to enhance interoperability with Beacon networks. It is specifically optimized for use with mapped BAM files from the EGAD00001008392 synthetic ...
This publication corresponds to the Research Objects (RO) of the Baseline Use Case proposed in T.5.2 (WP5) in the BY-COVID project on “COVID-19 Vaccine(s) effectiveness in preventing SARS-CoV-2 infection”.
Type: Quarto Markdown
Creators: Enrique Bernal-Delgado, Nina Van Goethem, Francisco Estupiñan-Romero, Marjan Meurisse, Javier González Galindo, Natalia Martínez-Lizaga, Santiago Royo-Sierra
Submitter: Marjan Meurisse