Diverse mechanisms of somatic structural variations in human cancer genomes.

ABSTRACT: Identification of somatic rearrangements in cancer genomes has accelerated through analysis of high-throughput sequencing data. However, characterization of complex structural alterations and their underlying mechanisms remains inadequate. Here, applying an algorithm to predict structural variations from short reads, we report a comprehensive catalog of somatic structural variations and the mechanisms generating them, using high-coverage whole-genome sequencing data from 140 patients across ten tumor types. We characterize the relative contributions of different types of rearrangements and their mutational mechanisms, find that ~20% of the somatic deletions are complex deletions formed by replication errors, and describe the differences between the mutational mechanisms in somatic and germ

SUBMITTER: Yang L 

PROVIDER: S-EPMC3704973 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature