Literature DB >> 25152801

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

Xian Fan1, Travis E Abbott2, David Larson2, Ken Chen1.   

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.

Entities:  

Keywords:  BreakDancer; Discordant Read Pair; Genomics; Next Generation Sequencing; Structural Variation

Mesh：

Year:  2014        PMID： 25152801      PMCID： PMC4138716          DOI： 10.1002/0471250953.bi1506s45

Source DB:  PubMed          Journal:  Curr Protoc Bioinformatics        ISSN： 1934-3396


  13 in total

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