Article
A practical framework and online tool for mutational signature analyses show inter-tissue variation and driver dependencies.
Nature cancer - 1 Feb 2020
Degasperi Andrea, Amarante Tauanne Dias, Czarnecki Jan, Shooter Scott, Zou Xueqing, Glodzik Dominik, Morganella Sandro, Nanda Arjun S, Badja Cherif, Koh Gene, Momen Sophie E, Georgakopoulos-Soares Ilias, Dias João M L, Young Jamie, Memari Yasin, Davies Helen, Nik-Zainal Serena
Abstract excerpt
Mutational signatures are patterns of mutations that arise during tumorigenesis. We present an enhanced, practical framework for mutational signature analyses. Applying these methods on 3,107 whole genome sequenced (WGS) primary cancers of 21 organs reveals known signatures and nine previously undescribed rearrangement signatures. We highlight inter-organ variability of signatures and present a way of visualizing...
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