raredisease
importedsoftware/raredisease
Call and score variants from WGS/WES of rare disease patients.
Machine-generated from the listed sources and not yet reviewed by a human.
- Category
- Software & Systems
- Subcategory
- unknown
- License
- MIT(osi)
- Status
- active
- Maturity
- deployed
- Organization
- nf-core
- Country
- unknown
- Homepage
- nf-co.re/raredisease
- Repository
- github.com/nf-core/raredisease
- Documentation
- unknown
- Tags
- diagnostics · nextflow · nf-core · pipeline · rare-disease · snv · structural-variants · variant-annotation
- Regulatory
- unknown
Top contributors by commit count, from the project’s public repository. Avatars are served by their origin, not stored here. To be removed from this list, open an issue.
Computed from shared tags, weighted so a rare tag counts for more than a common one. These are suggestions, not curated relationships.
- variantbenchmarkingnextflow · nf-core · pipeline · structural-variants
Pipeline to evaluate and validate the accuracy of variant calling methods in genomic research
- omicsDiagnosticsdiagnostics · rare-disease
This repository contains different scripts to automate and visualize analysis performed for the "Integration of proteomics with genomics and transcriptomics increases the diagnosis rate of Mendelian…
- bactmapnextflow · nf-core · pipeline
A mapping-based pipeline for creating a phylogeny from bacterial whole genome sequences
- circdnanextflow · nf-core · pipeline
Pipeline for the identification of extrachromosomal circular DNA (ecDNA) from Circle-seq, WGS, and ATAC-seq data that were generated from cancer and other eukaryotic cells.
- circrnanextflow · nf-core · pipeline
circRNA quantification, differential expression analysis and miRNA target prediction of RNA-Seq data
- deepmodeloptimnextflow · nf-core · pipeline
Stochastic Testing and Input Manipulation for Unbiased Learning Systems
- api.github.com/repos/nf-core/rarediseaseretrieved 2026-08-05 · via github-api
Machine-imported from GitHub search. Last push 2026-08-05, 122 stars, license reported as MIT. Category and schematic were assigned by keyword heuristics and are unreviewed.
Not yet verified by a human. Correct this record →
/v1/entries/29.json→ .entries["raredisease"]
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