TY - JOUR A1 - Meier, Richard A1 - Graw, Stefan A1 - Beyerlein, Peter A1 - Koestler, Devin A1 - Molina, Julian R. A1 - Chien, Jeremy T1 - digit—a tool for detection and identification of genomic interchromosomal translocations TI - Nucleic Acids Research N2 - Structural variations (SVs) in genomic DNA can have profound effects on the evolution of living organisms, on phenotypic variations and on disease processes. A critical step in discovering the full extent of structural variations is the development of tools to characterize these variations accurately in next generation sequencing data. Toward this goal, we developed a software pipeline named digit that implements a novel measure of mapping ambiguity to discover interchromosomal SVs from mate-pair and pair-end sequencing data. The workflow robustly handles the high numbers of artifacts present in mate-pair sequencing and reduces the false positive rate while maintaining sensitivity. In the simulated data set, our workflow recovered 96% of simulated SVs. It generates a self-updating library of common translocations and allows for the investigation of patient- or group-specific events, making it suitable for discovering and cataloging chromosomal translocations associated with specific groups, traits, diseases or population structures. Y1 - 2017 UR - https://opus4.kobv.de/opus4-th-wildau/frontdoor/index/index/docId/969 UR - https://nbn-resolving.org/urn:nbn:de:kobv:526-opus4-9697 SN - 1362-4962 VL - 45 IS - 9 SP - e72 ER -