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

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

Research output: Contribution to journalReview articlepeer-review

56 Scopus citations

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.

Original languageEnglish (US)
Article number208
JournalGenome biology
Volume21
Issue number1
DOIs
StatePublished - Aug 17 2020

Keywords

  • Copy number aberrations
  • Intra-tumor heterogeneity
  • Single-cell DNA sequencing
  • Tumor evolution

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology

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