Copy-number analysis and inference of subclonal populations in cancer genomes using Sclust

Y Cun, TP Yang, V Achter, U Lang, M Peifer - Nature protocols, 2018 - nature.com
Nature protocols, 2018nature.com
The genomes of cancer cells constantly change during pathogenesis. This evolutionary
process can lead to the emergence of drug-resistant mutations in subclonal populations,
which can hinder therapeutic intervention in patients. Data derived from massively parallel
sequencing can be used to infer these subclonal populations using tumor-specific point
mutations. The accurate determination of copy-number changes and tumor impurity is
necessary to reliably infer subclonal populations by mutational clustering. This protocol …
Abstract
The genomes of cancer cells constantly change during pathogenesis. This evolutionary process can lead to the emergence of drug-resistant mutations in subclonal populations, which can hinder therapeutic intervention in patients. Data derived from massively parallel sequencing can be used to infer these subclonal populations using tumor-specific point mutations. The accurate determination of copy-number changes and tumor impurity is necessary to reliably infer subclonal populations by mutational clustering. This protocol describes how to use Sclust, a copy-number analysis method with a recently developed mutational clustering approach. In a series of simulations and comparisons with alternative methods, we have previously shown that Sclust accurately determines copy-number states and subclonal populations. Performance tests show that the method is computationally efficient, with copy-number analysis and mutational clustering taking <10 min. Sclust is designed such that even non-experts in computational biology or bioinformatics with basic knowledge of the Linux/Unix command-line syntax should be able to carry out analyses of subclonal populations.
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