(WIP) best-practices workflow for rare disease
☆64Jul 1, 2024Updated 2 years ago
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…☆28Sep 9, 2026Updated 2 weeks ago
- A nextflow pipeline for calling CNVs in probe-enriched sequencing workflows☆14Aug 17, 2026Updated last month
- structural variant database software☆50Jul 31, 2026Updated last month
- using all the bits for echt rapid variant annotation and filtering☆162Jul 22, 2026Updated 2 months ago
- don't get DUP'ed or DEL'ed by your putative SVs.☆109Dec 14, 2020Updated 5 years ago
- 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.
- vembrane filters, sorts, and transforms VCF records using python expressions☆70Updated this week
- Structural variant (SV) analysis tools☆41Jul 1, 2024Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆38Sep 13, 2023Updated 3 years ago
- Jasmine: SV Merging Across Samples☆261Dec 20, 2024Updated last year
- Structural variant pipeline☆18Jun 25, 2020Updated 6 years ago
- 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)☆90Aug 18, 2026Updated last month
- End-to-end encrypted cloud storage - Proton Drive • AdSpecial offer: 40% Off Yearly / 80% Off First Month. Protect your most important files, photos, and documents from prying eyes.
- ☆36Mar 2, 2021Updated 5 years ago
- Plot structural variant signals from many BAMs and CRAMs☆574Jul 13, 2024Updated 2 years ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆23Nov 4, 2024Updated last year
- Scalable gVCF merging and joint variant calling for population sequencing projects☆189Apr 12, 2024Updated 2 years ago
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆19Sep 21, 2026Updated last week
- Structural variant benchmark☆24Mar 4, 2025Updated last year
- TIDDIT - structural variant calling☆80Jul 20, 2026Updated 2 months ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Apr 22, 2026Updated 5 months ago
- Structural variant VCF annotation, filtering, duplicate removal and comparison☆38Sep 3, 2026Updated 3 weeks ago
- Wordpress hosting with auto-scaling - Free Trial Offer • AdFully Managed hosting for WordPress and WooCommerce businesses that need reliable, auto-scalable performance. Cloudways SafeUpdates now available.
- WDL workflows for variant calling and assembly using ONT☆40Updated this week
- 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.☆142Feb 14, 2025Updated last year
- ☆25Jun 5, 2026Updated 3 months ago
- Phenotype driven gene prioritization for HPO☆53Jul 26, 2021Updated 5 years ago
- Call and score variants from WGS/WES of rare disease patients.☆126Updated this week
- Detect novel (and reference) STR expansions from short-read data☆71Dec 6, 2025Updated 9 months ago
- Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders☆173Mar 24, 2026Updated 6 months ago
- Rare Disease variant reanalysis tool☆85Updated this week
- 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.
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆39Mar 25, 2026Updated 6 months ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆51Apr 9, 2021Updated 5 years ago
- reference implementation of GA4GH WGS Quality Control Standards☆12Nov 25, 2025Updated 10 months ago
- vcfdist: Accurately benchmarking phased variant calls☆90Aug 28, 2026Updated 3 weeks ago
- A structural variation pipeline for short-read sequencing☆208Updated this week
- fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs... "like damn that is one smart wine guy"☆337Updated this week
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆36Oct 27, 2025Updated 11 months ago