Break Dance in the Genomes

摘要

Genomic structural variation such as deletion, inversion, and translocation can cause severe genetic disorders such as cancer and Alzheimer's disease. To study the genetics of these diseases, we developed a computational tool BreakDancer that detects a wide variety of structural variants in the human genome. We applied Break-Dancer's to our cancer genome projects and to the 1,000 Genomes project. We found that the tool substantially improved the state of the art of SV detection, and that it is especially effective at detecting both small and large indels from 10 bp to 1 Mbp.