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Methods for copy number aberration detection from single-cell DNA-sequencing data.

ABSTRACT: Copy number aberrations (CNAs), which are pathogenic copy number variations (CNVs), play an important role in the initiation and progression of cancer. Single-cell DNA-sequencing (scDNAseq) technologies produce data that is ideal for inferring CNAs. In this review, we review eight methods that have been developed for detecting CNAs in scDNAseq data, and categorize them according to the steps of a seven-step pipeline that they employ. Furthermore, we review models and methods for evolutionary analyses of CNAs from scDNAseq data and highlight advances and future research directions for computational methods for CNA detection from scDNAseq data.

SUBMITTER: Mallory XF

PROVIDER: S-EPMC7433197 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Methods for copy number aberration detection from single-cell DNA-sequencing data.

Mallory Xian F XF Edrisi Mohammadamin M Navin Nicholas N Nakhleh Luay L

Genome biology 20200817 1

Copy number aberrations (CNAs), which are pathogenic copy number variations (CNVs), play an important role in the initiation and progression of cancer. Single-cell DNA-sequencing (scDNAseq) technologies produce data that is ideal for inferring CNAs. In this review, we review eight methods that have been developed for detecting CNAs in scDNAseq data, and categorize them according to the steps of a seven-step pipeline that they employ. Furthermore, we review models and methods for evolutionary ana ...[more]

PMID: 32807205

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