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@Computational-Rare-Disease-Genomics-WHG

Computational Rare Disease Genomics WHG

We use computational approaches to research the genetic basis of rare human disease

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  1. VuTR VuTR Public

    Web app to visualise the consequences of high-impact 5' UTR Variants

    JavaScript 6

  2. Near_coding_annotation Near_coding_annotation Public

    This is a repository of peripheral scripts, documents and data associated with the manuscript "Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiag…

    R 3 1

  3. 5-UTR_characterisation 5-UTR_characterisation Public

    Code for 5'UTR paper

    Shell 2

  4. RNU4-2 RNU4-2 Public

    Code relating to the RNU4-2 paper

    Jupyter Notebook 2

  5. the_STOP_gAPP the_STOP_gAPP Public

    Repository for the in-frame stop RShiny app

    R 1

  6. 3prime_CPG 3prime_CPG Public

    Identifying missing CpG variation in 3' UTR and developing a machine learning predictor to determine pathogenic CpG variants

    R

Repositories

Showing 10 of 12 repositories
  • VuTR Public

    Web app to visualise the consequences of high-impact 5' UTR Variants

    Computational-Rare-Disease-Genomics-WHG/VuTR’s past year of commit activity
    JavaScript 6 GPL-2.0 0 8 2 Updated Feb 26, 2026
  • spliceai-splint Public
    Computational-Rare-Disease-Genomics-WHG/spliceai-splint’s past year of commit activity
    Shell 0 0 0 0 Updated Dec 4, 2025
  • RNUdb Public

    A curated browser of snRNA variants

    Computational-Rare-Disease-Genomics-WHG/RNUdb’s past year of commit activity
    TypeScript 0 MIT 0 6 (2 issues need help) 1 Updated Nov 25, 2025
  • the_STOP_gAPP Public

    Repository for the in-frame stop RShiny app

    Computational-Rare-Disease-Genomics-WHG/the_STOP_gAPP’s past year of commit activity
    R 1 MIT 0 0 0 Updated Oct 9, 2025
  • smORF_EP Public

    smORF-EP: predicting the effect of variants in small open reading frames

    Computational-Rare-Disease-Genomics-WHG/smORF_EP’s past year of commit activity
    Python 0 0 0 0 Updated Oct 9, 2025
  • Near_coding_annotation Public

    This is a repository of peripheral scripts, documents and data associated with the manuscript "Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease".

    Computational-Rare-Disease-Genomics-WHG/Near_coding_annotation’s past year of commit activity
    R 3 MIT 1 0 0 Updated Mar 28, 2025
  • smorf_var_consequence_annotation Public

    A set of scripts to allow annotation of variant consequence on a custom set of smORFs

    Computational-Rare-Disease-Genomics-WHG/smorf_var_consequence_annotation’s past year of commit activity
    R 0 0 0 0 Updated Dec 2, 2024
  • RNU4-2 Public

    Code relating to the RNU4-2 paper

    Computational-Rare-Disease-Genomics-WHG/RNU4-2’s past year of commit activity
    Jupyter Notebook 2 0 0 0 Updated Jun 24, 2024
  • 5-UTR_characterisation Public

    Code for 5'UTR paper

    Computational-Rare-Disease-Genomics-WHG/5-UTR_characterisation’s past year of commit activity
    Shell 2 GPL-3.0 0 0 0 Updated Apr 7, 2024
  • 3prime_CPG Public

    Identifying missing CpG variation in 3' UTR and developing a machine learning predictor to determine pathogenic CpG variants

    Computational-Rare-Disease-Genomics-WHG/3prime_CPG’s past year of commit activity
    R 0 MIT 0 0 0 Updated Dec 13, 2023
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