A structural variation pipeline for short-read sequencing
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Updated
Aug 26, 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
Structural variant discovery and genotyping from mapped PacBio HiFi data
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
Structural variant calling tutorial using long-reads.
A snakemake pipeline to call structure variants from ONT data
2110581 Bioinformatics I project - Structural variant detection
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