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BreakDancer: Identification of Genomic Structural Variation from Paired-End Read Mapping

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Date 2014 Aug 26
PMID 25152801
Citations 91
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Abstract

The advent of the next-generation sequencing data has made it possible to cost-effectively detect and characterize genomic variation in human genomes. Structural variation, including deletion, duplication, insertion, inversion and translocation, is of great importance to human genetics due to its association with many genetic diseases. BreakDancer is a bioinformatics tool that relates paired-end read alignments from a test genome to the reference genome for the purpose of comprehensively and accurately detecting various types of structural variation.

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