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A phenotype-based tool for variant prioritization in WES and WGS data
THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build
A MatchMaker Exchange server
Sample parser for the OMIM genemap2.txt file
Simulation of disease-phenotype annotation with imprecision and noise.
Simple script to generate GRCh37/hg19 genomic coordinate for MIM genes
Mode of Inheritance detection with multiple datasets.