A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region expansions (RREs) from short DNA reads
☆27Mar 16, 2026Updated 3 weeks ago
Alternatives and similar repositories for structural
Users that are interested in structural are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last month
- A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data☆13Mar 30, 2026Updated last week
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆27Apr 3, 2026Updated last week
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Apr 2, 2026Updated last week
- Structural variant (SV) analysis tools☆41Jul 1, 2024Updated last year
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click and start building anything your business needs.
- (WIP) best-practices workflow for rare disease☆62Jul 1, 2024Updated last year
- Curated list of resources for variant prioritization☆14Nov 18, 2025Updated 4 months ago
- Gene lists related to cancer immunotherapy☆14Sep 11, 2024Updated last year
- vembrane filters VCF records using python expressions☆69Mar 31, 2026Updated last week
- TIDDIT - structural variant calling☆78Mar 22, 2026Updated 2 weeks ago
- Short Tandem Repeat disease loci resource☆27Apr 2, 2026Updated last week
- structural variant database software☆48Feb 16, 2026Updated last month
- an interactive visualization and interpretation framework of reference-projected pangenome graphs☆39Feb 15, 2025Updated last year
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- Managed Database hosting by DigitalOcean • AdPostgreSQL, MySQL, MongoDB, Kafka, Valkey, and OpenSearch available. Automatically scale up storage and focus on building your apps.
- Tandem repeat genotyping with long reads☆36Sep 23, 2025Updated 6 months ago
- PanEffect is a JavaScript framework to explore variant effects across a pangenome. The tool has two views that allows a user to (1) expl…☆13Jan 30, 2024Updated 2 years ago
- expressions on VCFs☆91Mar 17, 2026Updated 3 weeks ago
- Translocator: local realignment and global remapping enabling accurate translocation detection using single-molecule sequencing long read…☆12Jan 22, 2020Updated 6 years ago
- CADD-SV – a framework to score the effect of structural variants☆18Feb 11, 2026Updated 2 months ago
- Genotyping of copy number sensitive allele-specific haplotypes☆27Nov 6, 2025Updated 5 months ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆264Jun 17, 2024Updated last year
- R package and wrapper functions for identifying serial structural variations from genome assemblies☆29Sep 21, 2024Updated last year
- ☆20Nov 30, 2023Updated 2 years ago
- Virtual machines for every use case on DigitalOcean • AdGet dependable uptime with 99.99% SLA, simple security tools, and predictable monthly pricing with DigitalOcean's virtual machines, called Droplets.
- ☆35Mar 24, 2026Updated 2 weeks ago
- Identifying large scale inversions between two genomes by mapping genome 1's unique kmers onto genome 2.☆10Jun 6, 2025Updated 10 months ago
- Kmer Analysis of Pileups for Genotyping☆38Mar 6, 2026Updated last month
- Toolkit for VNTR genotyping and repeat-pan genome graph construction☆32Aug 18, 2025Updated 7 months ago
- ☆22Jan 3, 2025Updated last year
- ☆29Feb 17, 2021Updated 5 years ago
- ☆27Mar 1, 2026Updated last month
- Wally: Visualization of aligned sequencing reads and contigs☆123Oct 9, 2025Updated 6 months ago
- Please consider using/contributing to https://github.com/nf-core/sarek☆18Jan 3, 2019Updated 7 years ago
- Bare Metal GPUs on DigitalOcean Gradient AI • AdPurpose-built for serious AI teams training foundational models, running large-scale inference, and pushing the boundaries of what's possible.
- Kmer based genotyper for short reads.☆23Oct 19, 2021Updated 4 years ago
- Ultra rapid nanopore whole genome sequencing pipeline, published in https://www.nature.com/articles/s41587-022-01221-5☆18Jun 28, 2024Updated last year
- Deep learning-based structural variant filtering method☆39Nov 19, 2023Updated 2 years ago
- nf-test utility functions☆12Mar 5, 2026Updated last month
- Identification of structural variations☆12Jul 22, 2022Updated 3 years ago
- ☆19Feb 27, 2026Updated last month
- Genotype Representation Graph Library☆44Apr 1, 2026Updated last week