rare-variants

There are 4 repositories under rare-variants topic.

  • bio-ontology-research-group/phenomenet-vp

    A phenotype-based tool for variant prioritization in WES and WGS data

    Language:Java3681213

  • diptavo/MultiSKAT

    MultiSKAT is an R-package focused at rare-variant analysis of continuous multiple phenotype data. This project contains the R-codes/functions (including an example dataset) to carry out the MultiSKAT tests.

    Language:R11151

  • TimoLassmann/Phenoparser

    Small program to query OMIM and store output in a local sqlite database.

    Language:C4202

  • mansheelagarwal/HybridBrainTumor_Classification

    What started off as a simple hybridized brain tumor detection idea led to the detection of possible rare cases of tumor through thorough features examination of the MRI scans casted away as "No Tumor" by the GAN-CNN hybrid model.

    Language:Jupyter Notebook0100