(WIP) best-practices workflow for rare disease
☆62Jul 1, 2024Updated last year
Alternatives and similar repositories for rare-disease-wf
Users that are interested in rare-disease-wf 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 bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Apr 17, 2026Updated last month
- A nextflow pipeline for calling exome CNVs☆14May 20, 2026Updated last week
- structural variant database software☆48Updated this week
- using all the bits for echt rapid variant annotation and filtering☆161Apr 30, 2026Updated 3 weeks ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆108Dec 14, 2020Updated 5 years ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- Structural variant (SV) analysis tools☆41Jul 1, 2024Updated last year
- vembrane filters, sorts, and transforms VCF records using python expressions☆70May 19, 2026Updated last week
- Structural variant pipeline☆18Jun 25, 2020Updated 5 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Sep 13, 2023Updated 2 years ago
- Jasmine: SV Merging Across Samples☆252Dec 20, 2024Updated last year
- Deep learning-based structural variant filtering method☆40Nov 19, 2023Updated 2 years ago
- ☆20Nov 30, 2023Updated 2 years ago
- Scalable genomic analysis pipelines, written in WDL☆12Updated this week
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Updated this week
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- Scalable gVCF merging and joint variant calling for population sequencing projects☆185Apr 12, 2024Updated 2 years ago
- Plot structural variant signals from many BAMs and CRAMs☆566Jul 13, 2024Updated last year
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Nov 4, 2024Updated last year
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆18Apr 1, 2026Updated last month
- ☆35Mar 2, 2021Updated 5 years ago
- Structural variant benchmark☆22Mar 4, 2025Updated last year
- TIDDIT - structural variant calling☆79Mar 22, 2026Updated 2 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆41Apr 22, 2026Updated last month
- LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads☆105Apr 8, 2026Updated last month
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- python stuff I use☆20Feb 16, 2026Updated 3 months ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Feb 17, 2022Updated 4 years ago
- Bam Error Stats Tool (best): analysis of error types in aligned reads.☆141Feb 14, 2025Updated last year
- ☆24May 15, 2026Updated 2 weeks ago
- Detect novel (and reference) STR expansions from short-read data☆71Dec 6, 2025Updated 5 months ago
- Call and score variants from WGS/WES of rare disease patients.☆117May 21, 2026Updated last week
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆51Apr 9, 2021Updated 5 years ago
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆166Mar 24, 2026Updated 2 months ago
- reference implementation of GA4GH WGS Quality Control Standards☆11Nov 25, 2025Updated 6 months ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Phenotype driven gene prioritization for HPO☆51Jul 26, 2021Updated 4 years ago
- WDL workflows for variant calling and assembly using ONT☆39May 12, 2026Updated 2 weeks ago
- A structural variation pipeline for short-read sequencing☆202May 22, 2026Updated last week
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆317Apr 24, 2026Updated last month
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆36Oct 27, 2025Updated 7 months ago
- Sample Contamination Estimate from VCF☆21Nov 6, 2024Updated last year
- vcfdist: Accurately benchmarking phased variant calls☆87Feb 23, 2026Updated 3 months ago