Top 17 structural-variation open source projects

Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.

What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.

Allele-specific copy number estimation with whole genome sequencing

Method to optimally select samples for validation and resequencing

Complex structural variant detection from WGS data

dysgu-SV is a collection of tools for calling structural variants using short or long reads

MUM&Co is a simple bash script that uses Whole Genome Alignment information provided by MUMmer (only v4) to detect Structural Variation

SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data

Identification of segmental duplications in the genome

Tools for processing and analyzing structural variants.

Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA

The Modular Aligner and The Modular SV Caller

Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data

A method for circular DNA detection based on probabilistic mapping of ultrashort reads

Fast and accurate gene fusion detection from RNA-Seq data

Population-wide Deletion Calling

simuG: a general-purpose genome simulator