PScnv: Personalized Self-Normalizing CNV Detection with a Hierarchical Multi-Phase Framework
Abstract
PScnv is a bioinformatics tool for detecting Copy Number Variations (CNVs) from WGS, WES, and targeted panel sequencing data.It leverages a baseline reference built from healthy control samples to improve CNV detection accuracy without requiring matched negative controls.
Fields of Study & Subjects
Genomic variations and chromosomal abnormalities
Genomics and Phylogenetic Studies
Cancer Genomics and Diagnostics
Publication details
- Journal / source
- Zenodo (CERN European Organization for Nuclear Research)
- Publication date
- 29 January 2026
- Language
- EN