structural-variants topic

List structural-variants repositories

MoMI-G

85
Stars
6
Forks
Watchers

Modular Multi-scale Integrated Genome Graph Browser

MindTheGap

35
Stars
10
Forks
Watchers

MindTheGap is a SV caller for short read sequencing data dedicated to insertion variants (all sizes and types). It can also be used as a local assembly tool.

raredisease

73
Stars
34
Forks
Watchers

Call and score variants from WGS/WES of rare disease patients.

sv-callers

71
Stars
34
Forks
Watchers

Snakemake-based workflow for detecting structural variants in genomic data

pavfinder

17
Stars
5
Forks
Watchers

:mag: Post Assembly Variants Finder

gatk-sv

159
Stars
70
Forks
Watchers

A structural variation pipeline for short-read sequencing

HiPhase

55
Stars
5
Forks
Watchers

Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads

Postre

18
Stars
1
Forks
Watchers

POSTRE: Prediction Of STRuctural variant Effects

genome-seek

16
Stars
8
Forks
Watchers

Clinical Whole Genome and Exome Sequencing Pipeline