raredisease

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

• ramprasadn
• jemten
• projectoriented
• peterpru
• rannick
• sima-r

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

• diaproteomicsnextflow · nf-core · pipeline

  Automated quantitative analysis of DIA proteomics mass spectrometry measurements.

• pacvarnextflow · nf-core · pipeline

  Longread PacBio sequencing processing for WGS and PureTarget

• proteinannotatornextflow · nf-core · pipeline

  Generation of sequence-level annotations for amino acid sequences

• rnavarnextflow · nf-core · pipeline

  gatk4 RNA variant calling pipeline

• scdownstreamnextflow · nf-core · pipeline

  A single cell transcriptomics pipeline for QC, integration and making the data presentable

1. api.github.com/repos/nf-core/raredisease
   retrieved 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.

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/v1/entries/29.json→ .entries["raredisease"]

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