Article

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

2024-12-22

Abstract excerpt

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...

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Literature Corpus work: ffdb9041-e188-5a47-ae95-a62468ff6f71
DOI: 10.1101/2024.12.19.629494

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