SVclone: inferring structural variant cancer cell fraction

Abstract:

We present SVclone, a computational method for inferring the cancer cell fraction of structural variant breakpoints from whole-genome sequencing data. We validate our approach using simulated and real tumour samples, and demonstrate its utility on 2,778 whole-genome sequenced tumours. We find a subset of liver, breast and ovarian cancer cases with decreased overall survival that have subclonally enriched copy-number neutral rearrangements, an observation that could not be discovered with currently available methods.

Authors:

M Cmero, CS Ong, K Yuan, J Schröder, K Mo, NM Corcoran, AT Papenfuss, CM Hovens, F Markowetz, G Macintyre

Publication date:

4th Aug 2017

Full text

DOI