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Article

Improved allele-specific single-cell copy number estimation in low-coverage DNA-sequencing.

Bioinformatics (Oxford, England) - 2 Aug 2024

Weiner Samson, Li Bingjun, Nabavi Sheida

Abstract excerpt

MOTIVATION: Advances in whole-genome single-cell DNA sequencing (scDNA-seq) have led to the development of numerous methods for detecting copy number aberrations (CNAs), a key driver of genetic heterogeneity in cancer. While most of these methods are limited to the inference of total copy number, some recent approaches now infer allele-specific CNAs using innovative techniques for estimating allele-frequencies in...

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PMID: 39133157
DOI: 10.1093/bioinformatics/btae506
PMCID: PMC11346770

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