A structural variation pipeline for short-read sequencing
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Updated
Sep 20, 2024 - Python
A structural variation pipeline for short-read sequencing
Snakemake-based workflow for detecting structural variants in genomic data
Call and score variants from WGS/WES of rare disease patients.
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
A nextflow variant benchmarking pipeline - premature
🔍 Post Assembly Variants Finder
Modular Multi-scale Integrated Genome Graph Browser
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
Germline structural variant calling pipeline for short read WGS datasets
Structural variant discovery and genotyping from mapped PacBio HiFi data
Snakemake-based workflow for generating artificial genomes with structural variants
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
POSTRE: Prediction Of STRuctural variant Effects
My work during internship in Walter+Eliza Hall Institute of Medical Research
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
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