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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 2 1

  3. RNU4-2 RNU4-2 Public

    Code relating to the RNU4-2 paper

    Jupyter Notebook 2

  4. 5-UTR_characterisation 5-UTR_characterisation Public

    Code for 5'UTR paper

    Shell 1

  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 9 of 9 repositories
  • 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
  • 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 1 Updated Nov 15, 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
  • 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 2 MIT 1 0 0 Updated Apr 19, 2024
  • 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 7 3 Updated Apr 12, 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 1 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
  • non-coding_second_hits Public

    Supplementary table for manuscript

    Computational-Rare-Disease-Genomics-WHG/non-coding_second_hits’s past year of commit activity
    0 MIT 0 0 0 Updated Jun 23, 2023
  • shuffle_utrs Public Forked from frhl/shuffle_utrs

    Code for shuffling MANE 5'UTR

    Computational-Rare-Disease-Genomics-WHG/shuffle_utrs’s past year of commit activity
    R 0 1 0 0 Updated Mar 14, 2023

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