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

Snakemake-based workflow for detecting structural variants in genomic data

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

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.

Structural variant discovery and genotyping from mapped PacBio HiFi data

Complex structural variant visualization for HiFi sequencing data

POSTRE: Prediction Of STRuctural variant Effects

Clinical Whole Genome and Exome Sequencing Pipeline

🔍 Post Assembly Variants Finder

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

A nextflow variant benchmarking pipeline - premature

Snakemake-based workflow for generating artificial genomes with structural variants

A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples

Germline structural variant calling pipeline for short read WGS datasets

Long read structural variants in rare disease cohort

Genome assembly and variant benchmarks for Chinese Quartet

A snakemake pipeline to call structure variants from ONT data