BreakDancer: Identification of Genomic Structural Variation from Paired‐End Read Mapping
Year: 2014
Type: article
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: Xian Fan, Travis E. Abbott, David Larson, Ken Chen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: An Integrative Analysis of Structural Variation for the 1000 Genomes Project, A Turnkey System for High-throughput Variant Discovery and Interpretation, Delineating Heterogeneous Structural Complexity in Cancer Genomes, A Platform for Large-Scale Genomic Discovery, G318668650, Cancer Center Support Grant
OpenAlex ID: W1592050624