Complex structural variant detection from WGS data
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Updated
Jun 24, 2024 - Python
Complex structural variant detection from WGS data
nRex: Germline and somatic single-nucleotide, short indel and structural variant calling
A web app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.
structural variant calling and genotyping with existing tools, but, smoothly.
GraffiTE is a pipeline that finds polymorphic transposable elements in genome assemblies and/or long reads, and genotypes the discovered polymorphisms in read sets using genome-graphs.
A tutorial on structural variant calling for short read sequencing data
Kmer Analysis of Pileups for Genotyping
A Python package for pharmacogenomics (PGx) research
A structural variation pipeline for short-read sequencing
A snakemake pipeline to call structure variants from ONT data
A combination of optical genome mapping with Bionano and whole genome sequencing short-read data. This pipeline was created to help integrate structural variant calling from these two technologies.
Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA
Long read based human genomic structural variation detection with cuteSV
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
Targeted genotyper for complex polymorphic genes
A scalable variant calling and benchmarking framework supporting both short and long reads.
An R package for studying mutational signatures and structural variant signatures along clonal evolution in cancer.
Structural variant toolkit for VCFs
Supporting material for H3Africa Structural and Copy Number Variant paper: summary data and scripts
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