A structural variation pipeline for short-read sequencing
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Updated
Aug 26, 2024 - Python
A structural variation pipeline for short-read sequencing
Structural variant toolkit for VCFs
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.
A workflow for using SpeedSeq to align and call SVs from WGS data
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
Structural variant discovery and genotyping from mapped PacBio HiFi data
Documentation of FuSViz app
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.
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
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.
Structural variation caller using third generation sequencing
Targeted genotyper for complex polymorphic genes
Caught on the jump! Next-generation genomic mobile element and structural variant identification tool.
A Python package for pharmacogenomics (PGx) research
simuG: a general-purpose genome simulator
A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
This repository contains relevant code and explanation for ”Leveraging a phased pangenome to design ideal haplotypes for hybrid potato breeding“
Kmer Analysis of Pileups for Genotyping
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