Config and setup to run nf-core/raredisease pipeline
☆10Sep 11, 2025Updated last year
Alternatives and similar repositories for raredisease-configs
Users that are interested in raredisease-configs are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- ☆20Apr 24, 2026Updated 5 months ago
- reference implementation of GA4GH WGS Quality Control Standards☆12Nov 25, 2025Updated 9 months ago
- XOOS (sbX Optimized Open Source) Analysis Tools 🧬☆32Sep 3, 2026Updated 3 weeks ago
- Large scale ancestry inference from PCA data☆24May 2, 2023Updated 3 years ago
- A nextflow pipeline which integrates multiple omic data streams and performs coordinated analysis☆11Sep 11, 2026Updated last 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.
- A nextflow pipeline for calling CNVs in probe-enriched sequencing workflows☆14Aug 17, 2026Updated last month
- ☆87Aug 18, 2026Updated last month
- A proof of concept daisy-chaining Nextflow workflows☆35Sep 14, 2026Updated last week
- mtDNA-Server 2: A web-service and Nextflow pipeline for mitochondrial genomes☆23May 19, 2026Updated 4 months ago
- 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
- structural variant database software☆49Jul 31, 2026Updated last month
- A nextflow pipeline for analysing expression and splicing in RNA seq data from rare disease patient☆19Updated this week
- TIDDIT - structural variant calling☆80Jul 20, 2026Updated 2 months ago
- Generate beautiful API documentation for Nextflow pipelines☆19Aug 9, 2026Updated last month
- Deploy to Railway using AI coding agents - Free Credits Offer • AdUse Claude Code, Codex, OpenCode, and more. Autonomous software development now has the infrastructure to match with Railway.
- A web-browser app to visualise, interpret and prioritise genomic/transcriptomic structural variations (SVs) of multiple samples.☆15May 16, 2026Updated 4 months ago
- Call and score variants from WGS/WES of rare disease patients.☆124Updated this week
- Freelance bioinformaticians directory☆10Feb 10, 2023Updated 3 years ago
- (WIP) best-practices workflow for rare disease☆64Jul 1, 2024Updated 2 years ago
- R package to organise and standardise your genomic variant calls obtained with different callers.☆11Jul 15, 2019Updated 7 years ago
- The Exome Coverage and Identification Report displays the coverage of every target region in your capture design. It also displays regio…☆14Apr 22, 2015Updated 11 years ago
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆90Aug 18, 2026Updated last month
- Software for analyzing high dimensional dose-response data☆19Mar 18, 2026Updated 6 months ago
- Survey of bioinformatics field☆27Mar 18, 2012Updated 14 years ago
- Proton VPN Special Offer - Get 70% off • AdSpecial partner offer. Trusted by over 100 million users worldwide. Tested, Approved and Recommended by Experts.
- Code associated with the paper 'Cracking the blackbox of deep sequence-based protein-protein interaction prediction'☆33Jan 8, 2024Updated 2 years ago
- Human reference genome analysis sets☆63Jun 17, 2023Updated 3 years ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆38Jul 1, 2024Updated 2 years ago
- Variant Interpretation Pipeline☆51Updated this week
- Recommendations to contenarized your bioinformatics software☆12May 30, 2018Updated 8 years ago
- A genome-scale, fast, and precise segmental duplications mapping tool☆36Sep 11, 2024Updated 2 years ago
- ☆11Oct 7, 2025Updated 11 months ago
- SUmmarizing Multiple Enrichment analysis Results☆10Nov 14, 2024Updated last year
- ☆22Jun 12, 2023Updated 3 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.
- Structural Variation breakpoint discovery via adaptive learning☆17Jul 6, 2023Updated 3 years ago
- New home of the Covid19-NP-Swab NP-swab manufacturing project☆16Jul 24, 2020Updated 6 years ago
- Companion repository for the human variant calling pipeline comparison paper☆12Feb 21, 2022Updated 4 years ago
- A Bioconductor/R package for longitudinal system suitability monitoring and quality control for proteomic experiments☆10Jul 24, 2026Updated 2 months ago
- EukRef curation pipeline☆13May 11, 2021Updated 5 years ago
- An Open-source Factuality Evaluation Demo for LLMs☆31Aug 15, 2026Updated last month
- ☆14Dec 14, 2017Updated 8 years ago