(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 9, 2026Updated last week
- A nextflow pipeline for calling exome CNVs☆13Feb 24, 2026Updated last month
- structural variant database software☆48Feb 16, 2026Updated 2 months ago
- using all the bits for echt rapid variant annotation and filtering☆157Feb 18, 2026Updated 2 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆106Dec 14, 2020Updated 5 years ago
- Serverless GPU API endpoints on Runpod - Bonus Credits • AdSkip the infrastructure headaches. Auto-scaling, pay-as-you-go, no-ops approach lets you focus on innovating your application.
- vembrane filters VCF records using python expressions☆69Apr 10, 2026Updated last week
- Structural variant (SV) analysis tools☆41Jul 1, 2024Updated last year
- 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☆246Dec 20, 2024Updated last year
- Deep learning-based structural variant filtering method☆39Nov 19, 2023Updated 2 years ago
- ☆20Nov 30, 2023Updated 2 years ago
- Scalable genomic analysis pipelines, written in WDL☆12Mar 11, 2026Updated last month
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆89Mar 27, 2026Updated 3 weeks ago
- 1-Click AI Models by DigitalOcean Gradient • AdDeploy popular AI models on DigitalOcean Gradient GPU virtual machines with just a single click. Zero configuration with optimized deployments.
- Scalable gVCF merging and joint variant calling for population sequencing projects☆181Apr 12, 2024Updated 2 years ago
- Plot structural variant signals from many BAMs and CRAMs☆564Jul 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 2 weeks ago
- ☆35Mar 2, 2021Updated 5 years ago
- Structural variant benchmark☆22Mar 4, 2025Updated last year
- TIDDIT - structural variant calling☆79Mar 22, 2026Updated 3 weeks ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆40Dec 15, 2025Updated 4 months ago
- LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads☆103Apr 8, 2026Updated last week
- Wordpress hosting with auto-scaling - Free Trial • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- python stuff I use☆20Feb 16, 2026Updated 2 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
- ☆24Apr 1, 2026Updated 2 weeks ago
- Detect novel (and reference) STR expansions from short-read data☆71Dec 6, 2025Updated 4 months ago
- Call and score variants from WGS/WES of rare disease patients.☆116Apr 8, 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☆164Mar 24, 2026Updated 3 weeks ago
- reference implementation of GA4GH WGS Quality Control Standards☆11Nov 25, 2025Updated 4 months 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.
- Phenotype driven gene prioritization for HPO☆52Jul 26, 2021Updated 4 years ago
- WDL workflows for variant calling and assembly using ONT☆39Apr 10, 2026Updated last week
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆308Updated this week
- A structural variation pipeline for short-read sequencing☆202Updated this week
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆36Oct 27, 2025Updated 5 months ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- vcfdist: Accurately benchmarking phased variant calls☆85Feb 23, 2026Updated last month