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SCONCE: a method for profiling copy number alterations in cancer evolution using single-cell whole genome sequencing

24 Jan 2022

Abstract excerpt

MOTIVATION: Copy number alterations (CNAs) are a significant driver in cancer growth and development, but remain poorly characterized on the single cell level. Although genome evolution in cancer cells is Markovian through evolutionary time, CNAs are not Markovian along the genome. However, existing methods call copy number profiles with Hidden Markov Models or change point detection algorithms based on changes...

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PMID: 35080614
DOI: 10.1093/bioinformatics/btac041

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