Genome-wide analysis and visualization of copy number with CNVpytor in igv.js.

Bioinformatics (Oxford, England)
Authors
Abstract

SUMMARY: Copy number variation (CNV) and alteration (CNA) analysis is a crucial component in many genomic studies and its applications span from basic research to clinic diagnostics and personalized medicine. CNVpytor is a tool featuring a read depth-based caller and combined read depth and B-allele frequency (BAF) based 2D caller to find CNVs and CNAs. The tool stores processed intermediate data and CNV/CNA calls in a compact HDF5 file-pytor file. Here, we describe a new track in igv.js that utilizes pytor and whole genome variant files as input for on-the-fly read depth and BAF visualization, CNV/CNA calling and analysis. Embedding into HTML pages and Jupiter Notebooks enables convenient remote data access and visualization simplifying interpretation and analysis of omics data.AVAILABILITY: The CNVpytor track is integrated with igv.js and available at . The documentation is available at . Usage can be tested in the IGV-Web app at and also on .SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.

Year of Publication
2024
Journal
Bioinformatics (Oxford, England)
Date Published
07/2024
ISSN
1367-4811
DOI
10.1093/bioinformatics/btae453
PubMed ID
39018173
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