rare-variants

There are 0 repository under rare-variants topic.

bio-ontology-research-group / phenomenet-vp
A phenotype-based tool for variant prioritization in WES and WGS data
translationalscience variant-analysis variant-annotations prioritize-disease-variants rare-variants phenotypes vcf-files omim synthetic-genomes variants disease
Language:Java 34
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.
genetic-analysis gwas rare-variants rare-variant-analysis kernel multiple-phenotypes multiskat-tests kinship copula
Language:R 11
TimoLassmann / Phenoparser
Small program to query OMIM and store output in a local sqlite database.
genetics phenotype-ontologies rare-variants
Language:C 3
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.
brain-imaging braintumorclassification cnn gan mri rare-variants feature-engineering
Language:Jupyter Notebook

bio-ontology-research-group / phenomenet-vp