structural-variation 开源项目推荐（159 个）

fritzsedlazeck /Sniffles

Structural variation caller using third generation sequencing

dellytools /delly

DELLY2: Structural variant discovery by integrated paired-end and split-read analysis

Illumina /manta

Structural variant and indel caller for mapped sequencing data

ACEnglish /truvari

Structural variant toolkit for VCFs

tjiangHIT /cuteSV

Long read based human genomic structural variation detection with cuteSV

suhrig /arriba

利用RN-Seq数据快速准确地检测基因融合

cgroza /GraffiTE

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.

brentp /smoove

structural variant calling and genotyping with existing tools, but, smoothly.

broadinstitute /gatk-sv

用于短读测序的结构变异流水线

Illumina /paragraph

Graph realignment tools for structural variants

hall-lab /svtools

Tools for processing and analyzing structural variants.

kcleal /dysgu

Toolkit for calling structural variants using short or long reads

nanoporetech /pipeline-structural-variation

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

brentp /duphold

don't get DUP'ed or DEL'ed by your putative SVs.

yjx1217 /simuG

simuG: a general-purpose genome simulator

sbslee /pypgx

A Python package for pharmacogenomics (PGx) research

bioinformatics-centre /BayesTyper

A method for variant graph genotyping based on exact alignment of k-mers

PacificBiosciences /sawfish

Joint structural variant and copy number variant caller for HiFi sequencing data

MeHelmy /princess

该项目在 GitHub 上没有填写描述

XiaoTaoWang /NeoLoopFinder

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