structural-variants
There are 31 repositories under structural-variants topic.
broadinstitute/gatk-sv
A structural variation pipeline for short-read sequencing
MoMI-G/MoMI-G
Modular Multi-scale Integrated Genome Graph Browser
nf-core/raredisease
Call and score variants from WGS/WES of rare disease patients.
GooglingTheCancerGenome/sv-callers
Snakemake-based workflow for detecting structural variants in genomic data
PacificBiosciences/HiPhase
Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads
GATB/MindTheGap
MindTheGap is a SV caller for short read sequencing data dedicated to insertion variants (all sizes and types). It can also be used as a local assembly tool.
PacificBiosciences/sawfish
Structural variant discovery and genotyping from mapped PacBio HiFi data
vicsanga/Postre
POSTRE: Prediction Of STRuctural variant Effects
OpenOmics/genome-seek
Clinical Whole Genome and Exome Sequencing Pipeline
bcgsc/pavfinder
:mag: Post Assembly Variants Finder
WGLab/PhenoSV
PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.
nf-core/variantbenchmarking
A nextflow variant benchmarking pipeline - premature
GooglingTheCancerGenome/sv-gen
Snakemake-based workflow for generating artificial genomes with structural variants
dbespiatykh/RDscan
A snakemake workflow for regions of difference discovery in Mycobacterium tuberculosis complex (MTBC) samples
smail-lab-cmh/ga4k-sv-finder
Long read structural variants in rare disease cohort
Sydney-Informatics-Hub/Germline-StructuralV-nf
Germline structural variant calling pipeline for short read WGS datasets
xjtu-omics/ChineseQuartetGenome
Genome assembly and variant benchmarks for Chinese Quartet
jasonwong-lab/smk_sv
A snakemake pipeline to call structure variants from ONT data
NonRoute/Bioinformatic-I-Project
2110581 Bioinformatics I project - Structural variant detection
tobiasrausch/sv
Structural variant calling tutorial using long-reads.
auroramaurizio/my_DNA_seq_pipelines
In this repository I backup the pipelines I write for the project I am involved
ITBE-Lab/MSV-EVAL
The experiments performed in State-of-the-art structural variant calling: What went conceptually wrong and how to fix it?
leahkemp/test_SV_callers
Testing structural variant (SV) callers for illumina germline whole genome sequence (WGS) data (human).
bdolmo/GRAPES
Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data
d-fuh/Garvan_summerproject2021
Garvan KCCG Student Summer Research Project #1 Benchmarking structural variant callers on whole genome sequencing data
janawold1/2024_MolEcol_ConsGen_Special_Issue
A repository containing code for a manuscript intended for Molecular Ecology.
LupienLab/3d-reorganization-prostate-cancer
Code, analysis, and results for Hawley, Zhou, et al., Cancer Research, 2021.
drvenki/sv-cfdna
Structural Variants in cell-free tumor DNA
LitianZhou/litianzhou-pf-sv
My work during internship in Walter+Eliza Hall Institute of Medical Research
TheJacksonLaboratory/SV_Paired_BAM_NXF
Pipeline to analyze structural variants producing VCF files, then merge them and annotate if in Exon.