HapCNV: A Comprehensive Framework for CNV Detection in Low-input DNA Sequencing Data.

ABSTRACT: Copy number variants (CNVs) are prevalent in both diploid and haploid genomes, with the latter containing a single copy of each gene. Studying CNVs in genomes from single or few cells is significantly advancing our knowledge in human disorders and disease susceptibility. Low-input including low-cell and single-cell sequencing data for haploid and diploid organisms generally displays shallow and highly non-uniform read counts resulting from the whole genome amplification steps that introduce amplification biases. In addition, haploid organisms typically possess relatively short genomes and require a higher degree of DNA amplification compared to diploid organisms. However, most CNV detection methods are specifically developed for diploid genomes without specific consideration of effects on

SUBMITTER: Yu X 

PROVIDER: S-EPMC11702719 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature