VariationHunter/CommonLaw : prediction of structural variation (deletion, insertion, inversions and mobile element insertions) using paired-end read mapping
NovelSeq : prediction and discover of novel insertions in genomes using whole-genome sequencing
deFuse : gene fusions discovery in tumor using whole-genome sequencing
MrsFast : mapping reads to reference genome with user defined threshold on hamming distance
MrFast : mapping reads to reference genome with user defined threshold on edit distance
MAGI : discover of modules and pathways using combination of Protein-interaction network, coexpression network and mutations in cases
MAGI-S: Merging affected genes into integrating networks - seed-based
Odin: ultra-accurate disorder prediction using genetic variants (Oracle for DIsorder predictioN)
TARDIS: Toolkit for Automated and Rapid Discovery of Structural variants
Kevlar: Reference-free variant discovery in large eukaryotic genomes
Nebula: ultra-efficient mapping-free structural variant genotyper.
Ping-Pong: Sample-specific string detection from accurate long reads