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Inferring structural variant cancer cell fraction

5 Feb 2020

Abstract excerpt

We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV breakends, then simultaneously estimates the cancer cell fraction and SV copy number. We assess performance using in silico mixtures of real samples, at known proportions, created from two...

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PMID: 32024845
DOI: 10.1038/s41467-020-14351-8

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