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Identification of chromosomal translocation hotspots via scan statistics.


ABSTRACT:

Motivation

The detection of genomic regions unusually rich in a given pattern is an important undertaking in the analysis of next-generation sequencing data. Recent studies of chromosomal translocations in activated B lymphocytes have identified regions that are frequently translocated to c-myc oncogene. A quantitative method for the identification of translocation hotspots was crucial to this study. Here we improve this analysis by using a simple probabilistic model and the framework provided by scan statistics to define the number and location of translocation breakpoint hotspots. A key feature of our method is that it provides a global chromosome-wide nominal control level to clustering, as opposed to previous methods based on local criteria. While being motivated by a specific

SUBMITTER: Silva IT 

PROVIDER: S-EPMC4155254 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature