structural-variation

Structural variation caller using third generation sequencing

Structural variant toolkit for VCFs

Long read based human genomic structural variation detection with cuteSV

A structural variation pipeline for short-read sequencing

Tools for processing and analyzing structural variants.

Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data

A Python package for pharmacogenomics (PGx) research

A computation framework for genome-wide detection of enhancer-hijacking events from chromatin interaction data in re-arranged genomes

Merging, Annotation, Validation, and Illustration of Structural variants

A method for circular DNA detection based on probabilistic mapping of ultrashort reads

Python package to annotate and visualize gene fusions.

Support Vector Structural Variation Genotyper

Merge and compare structural variants across callers, samples, and platforms. Standardizes BND-heavy output from GRIDSS, SvABA, Sniffles, and more.

A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data

kGWASflow is a Snakemake workflow for performing k-mers-based GWAS.

This repository contains relevant code and explanation for ”Leveraging a phased pangenome to design ideal haplotypes for hybrid potato breeding“

Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.

Complex structural variant detection from WGS data

SNP-Assisted SV Calling and Phasing Using ONT