structural-variation
Toolkit for calling structural variants using short or long reads
Structural variant toolkit for VCFs
Structural variation caller using third generation sequencing
Merge and compare structural variants across callers, samples, and platforms. Standardizes BND-heavy output from GRIDSS, SvABA, Sniffles, and more.
A Python package for pharmacogenomics (PGx) research
Python package to annotate and visualize gene fusions.
A method for circular DNA detection based on probabilistic mapping of ultrashort reads
Long read based human genomic structural variation detection with cuteSV
Merging, Annotation, Validation, and Illustration of Structural variants
A computation framework for genome-wide detection of enhancer-hijacking events from chromatin interaction data in re-arranged genomes
Tools for processing and analyzing structural variants.
A language model enables accurate structural variant detection in whole-genome amplified long-read sequencing
Support Vector Structural Variation Genotyper
A toolkit to harmonize and filter structural variations across methods and samples.
DBFE is a Python library with feature extraction methods that facilitate classifier learning from distributions of genomic variants.
A Framework to call Structural Variants from NGS based datasets
Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity
