A structural variation pipeline for short-read sequencing
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Updated
Jun 12, 2024 - Python
A structural variation pipeline for short-read sequencing
Modular Multi-scale Integrated Genome Graph Browser
Call and score variants from WGS/WES of rare disease patients.
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.
POSTRE: Prediction Of STRuctural variant Effects
🔍 Post Assembly Variants Finder
Clinical Whole Genome and Exome Sequencing Pipeline
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Snakemake-based workflow for generating artificial genomes with structural variants
A nextflow variant benchmarking pipeline - premature
Germline structural variant calling pipeline for short read WGS datasets
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
Genome assembly and variant benchmarks for Chinese Quartet
Long read structural variants in rare disease cohort
A snakemake pipeline to call structure variants from ONT data
2110581 Bioinformatics I project - Structural variant detection
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
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