Litcius/Paper detail

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

Xian Mallory, Mohammadamin Edrisi, Nicholas E. Navin, Luay Nakhleh

2020Genome biology176 citationsDOIOpen Access PDF

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.

Topics & Concepts

BiologyCopy-number variationComputational biologyDNA sequencingHuman geneticsGenomicsSingle cell sequencingGeneticsGenomeDNAExome sequencingGeneMutationCancer Genomics and DiagnosticsSingle-cell and spatial transcriptomicsGenomic variations and chromosomal abnormalities