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

omim database

THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build

A MatchMaker Exchange server

R package for querying the OMIM database

Sample parser for the OMIM genemap2.txt file

Mode of Inheritance detection with multiple datasets.

Simple script to generate GRCh37/hg19 genomic coordinate for MIM genes

Simulation of disease-phenotype annotation with imprecision and noise.

Genotype-Phenotype Association Discovery: An ML tool to search and visualize Mendelian disease gene discovery information & trend.

Implementation of BioJoin Basic Project