Lumpy is a new probabilistic framework that we have developed to integrate multiple structural variation signals such as discordant paired-end alignments and split-read alignments. While it is clear that integrating all SV signals is important for sensitive discovery, most existing (including our own Hydra) tools only exploit one signal. Lumpy integrates multiple signals in order to improve sensitivity and breakpoint resolution. This is especially important for cancer genome analysis where tumor heterogeneity causes potentially important rearrangements occur with less supporting alignments in the sampled DNA.
- C ++ Compiler
- the GNU Scientific Library (GSL).
:: MORE INFORMATION
Layer RM, Quinlan AR, Hall IM,
LUMPY: A probabilistic framework for structural variant discovery.