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Inferring structural variant cancer cell fraction

Cmero, Marek; Yuan, Ke; Ong, Cheng Soon; Schroder, Jan; Corcoran, Niall M.; Papenfuss, Anthony T; Hovens, Christopher M.; Markowetz, Florian; Macintyre, I G


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 clonal metastases from the same patient. We find that SVclone’s performance is...[Show more]

CollectionsANU Research Publications
Date published: 2020
Type: Journal article
Source: Nature Communications
DOI: 10.1038/s41467-020-14351-8
Access Rights: Open Access


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