HapCNV: A Comprehensive Framework for CNV Detection in Low-input DNA Sequencing Data
Xuanxuan Yu, Fei Qin, Shiwei Liu, Noah J. Brown, Qing Lu, Guoshuai Cai, Jennifer L. Güler, Feifei Xiao
HapCNV improves CNV detection in low-input haploid sequencing data by using a pseudo-reference to reduce bias and enhance accuracy, especially for short CNVs.
bioRxiv · Dec 19, 2024 · PreprintBioinformatics