A structural variation pipeline for short-read sequencing
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Updated
May 21, 2024 - Python
A structural variation pipeline for short-read sequencing
Call and score variants from WGS/WES of rare disease patients.
Snakemake-based workflow for detecting structural variants in genomic data
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
🔍 Post Assembly Variants Finder
A nextflow variant benchmarking pipeline - premature
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
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
Garvan KCCG Student Summer Research Project #1 Benchmarking structural variant callers on whole genome sequencing data
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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