143 results for “topic:structural-variation”
Structural variation caller using third generation sequencing
DELLY2: Structural variant discovery by integrated paired-end and split-read analysis
Structural variant and indel caller for mapped sequencing data
Structural variant toolkit for VCFs
Long read based human genomic structural variation detection with cuteSV
structural variant calling and genotyping with existing tools, but, smoothly.
Fast and accurate gene fusion detection from RNA-Seq 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.
A structural variation pipeline for short-read sequencing
Graph realignment tools for structural variants
Tools for processing and analyzing structural variants.
Pipeline for calling structural variations in whole genomes sequencing Oxford Nanopore data
Toolkit for calling structural variants using short or long reads
don't get DUP'ed or DEL'ed by your putative SVs.
simuG: a general-purpose genome simulator
A method for variant graph genotyping based on exact alignment of k-mers
A Python package for pharmacogenomics (PGx) research
No description provided.
MUM&Co uses Whole Genome Alignment information provided by MUMmer (only v4) to detect Structural Variation
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
Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
An R package for studying mutational signatures and structural variant signatures along clonal evolution in cancer.
Joint structural variant and copy number variant caller for HiFi sequencing data
Python package to annotate and visualize gene fusions.
A method for circular DNA detection based on probabilistic mapping of ultrashort reads
Support Vector Structural Variation Genotyper
Pipeline for structural variation detection in cohorts
Complex structural variant visualization for HiFi sequencing data
A tool for genotyping Variable Number Tandem Repeats (VNTR) from sequence data