tools for Structure Variation calling

Gene RearrangementAnalySiS http://cancerit.github.io/grass/

https://github.com/PapenfussLab/gridss

Detect gene fusion directly from raw fastq files

https://github.com/OpenGene/FusionDirect.jl

Prioritize structural variants based on CADD scores

https://github.com/lganel/SVScore

GeneRearrangement AnalySiS http://cancerit.github.io/grass/

https://github.com/cancerit/grass

Breakpoints via assembly - Identifies breaks andattempts to assemble rearrangements.

https://github.com/cancerit/BRASS

FACTERA is atool for practical and robust de novo enumeration of genomic fusions andbreakpoints from paired-end targeted (or genome-wide) sequencing data. FACTERAhas minimal external dependencies, works directly on a preexisting BAMalignment file, and produces easily interpretable output.

https://factera.stanford.edu/

A method to identify structural variation from sequencing data in target regions

https://github.com/ccgd-profile/BreaKmer