ShatterProof: operational detection and quantification of chromothripsis.

ABSTRACT:

Background

Chromothripsis, a newly discovered type of complex genomic rearrangement, has been implicated in the evolution of several types of cancers. To date, it has been described in bone cancer, SHH-medulloblastoma and acute myeloid leukemia, amongst others, however there are still no formal or automated methods for detecting or annotating it in high throughput sequencing data. As such, findings of chromothripsis are difficult to compare and many cases likely escape detection altogether.

Results

We introduce ShatterProof, a software tool for detecting and quantifying chromothriptic events. ShatterProof takes structural variation calls (translocations, copy-number variations, short insertions and loss of heterozygosity) produced by any algorithm and using an operational de

SUBMITTER: Govind SK 

PROVIDER: S-EPMC3999944 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature