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 dataset, leveraging spiked-in variant data from RD-Connect GPAP synthetic data (available at Zenodo).
Version History
Version 1 (earliest) Created 3rd Mar 2025 at 09:03 by Khaled Jum'ah
Initial commit
Open
master
7c74287

Creators
Submitter
Views: 119 Downloads: 25 Runs: 1
Created: 3rd Mar 2025 at 09:03
Last updated: 3rd Mar 2025 at 09:53

None