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

ABSTRACT:

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 low coverage scDNA-seq data. However, these existing allele-specific methods are limited in their segmentation strategies, a crucial step in the CNA detection pipeline.

Results

We present SEACON (Single-cell Estimation of Allele-specific COpy Numbers), an allele-specific copy number profiler for scDNA-seq data. SEACON uses a Gaussian Mixture Model to identify latent

SUBMITTER: Weiner S 

PROVIDER: S-EPMC11346770 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature