structural-variants

A structural variation pipeline for short-read sequencing

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

Modular Multi-scale Integrated Genome Graph Browser

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

Snakemake-based workflow for detecting structural variants in genomic data

Joint structural variant and copy number variant caller for HiFi sequencing data

Complex structural variant visualization for HiFi sequencing data

Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research

Merge and compare structural variants across callers, samples, and platforms. Standardizes BND-heavy output from GRIDSS, SvABA, Sniffles, and more.

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.

Clinical Whole Genome and Exome Sequencing Pipeline

POSTRE: Prediction Of STRuctural variant Effects

Upscaling SV detection to a multi-population level.

Tools to gather evidence for structural variation via breakpoint detection.

PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.

🔍 Post Assembly Variants Finder

Toolkit for analyzing chimeric reads and structural variants in sequencing data

Structural variant calling tutorial using long-reads.

Germline structural variant calling pipeline for short read WGS datasets

Whole genome sequencing analysis pipeline for consumer hardware. 100% local, Docker-powered, free and open source.