variant-interpretation

There are 10 repositories under variant-interpretation topic.

  • brentp/slivar

    genetic variant expressions, annotation, and filtering for great good.

    Language:Nim259916423

  • sigven/pcgr

    Personal Cancer Genome Reporter (PCGR)

    Language:R2592415449

  • molgenis/vip

    Variant Interpretation Pipeline

    Language:Shell2461356

  • WGLab/PhenoSV

    PhenoSV: Interpretable phenotype-aware model for the prioritization of genes affected by structural variants.

    Language:Python164144

  • AMSSwanglab/SpecVar

    SpecVar is a convenient tool for estimating interpretable genetic correlation of human complex traits and annotating the SNPs with context specific regulatory networks

    Language:Shell7000

  • cmbi/metadome

    MetaDome is aimed at professionals in the (bio-)medical field of human genetics who wish to visualize the position of their mutation of interest in the context of general population-based genetic variation and provide detailed information of pathogenic variants found across homologous domain positions.

    Language:Python77502

  • AMSSwanglab/hReg-CNCC

    hReg-CNCC is a high-quality Regulatory network of Cranial Neural Crest Cell (CNCC), built by consensus optimization.

    Language:Python6000

  • LOVDnl/LOVDplus

    LOVD+ -- LOVD for diagnostics: analysis of whole-exome data using LOVD.

    Language:PHP5141

  • GeneGee/explanation-of-variants

    Aid for explanation of genetic variants in human

    Language:Python0000

  • ahwagner/pymvld

    A Python implementation of the Minimum Variant Level Data standard

    Language:Python20