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ShatterProof: operational detection and quantification of chromothripsis

19 Mar 2014

Abstract excerpt

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...

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PMID: 24646301
DOI: 10.1186/1471-2105-15-78

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