Genotype-Phenotype Association Discovery: An ML tool to search and visualize Mendelian disease gene discovery information & trend.
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Updated
Mar 5, 2024 - Python
Genotype-Phenotype Association Discovery: An ML tool to search and visualize Mendelian disease gene discovery information & trend.
A MatchMaker Exchange server
A phenotype-based tool for variant prioritization in WES and WGS data
Simple script to generate GRCh37/hg19 genomic coordinate for MIM genes
Sample parser for the OMIM genemap2.txt file
THIS IS THE OLD REPO: Use this one instead: https://github.com/monarch-initiative/mondo-build
Simulation of disease-phenotype annotation with imprecision and noise.
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