title: BreakDancer: Identification of Genomic Structural Variation from Paired-End Read Mapping.
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.
authors.affiliation: Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 1410, Houston, TX 77030.
authors.forename: Xian
authors.initials: X
authors.lastname: Fan
authors.affiliation: The Genome Institute at Washington University in St. Louis, 4444 Forest Park Ave., St. Louis, MO 63108.
authors.forename: Travis E
authors.initials: TE
authors.lastname: Abbott
authors.affiliation: The Genome Institute at Washington University in St. Louis, 4444 Forest Park Ave., St. Louis, MO 63108.
authors.forename: David
authors.initials: D
authors.lastname: Larson
authors.affiliation: Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd Unit 1410, Houston, TX 77030.
authors.forename: Ken
authors.initials: K
authors.lastname: Chen
mesh_terms: D015894:Genome, Human; D056914:Genomic Structural Variation; D006801:Humans
keywords: BreakDancer; Discordant Read Pair; Genomics; Next Generation Sequencing; Structural Variation