omim

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

omim database

R package for querying the OMIM database

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

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

Simulation of disease-phenotype annotation with imprecision and noise.

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

A comprehensive bioinformatics pipeline for downloading and analyzing genes associated with specific phenotypes from multiple biological databases. This package provides both R scripts for gene retrieval and Python analysis tools for downstream analysis.

Provenance-preserving generation and weak-model filtering of difficult biomedical QA from licensed OMIM data

Implementation of BioJoin Basic Project

a JavaScript conversion tool for Open Data Science URIs

Code for reproducing Figures 1–4 of the final dissertation

Automated variant annotation pipeline, and curated OMIM and ClinVar SNV datasets, developed by Martina Debnath.

Variant pathogenicity analysis using ClinVar, OMIM, UCSC, ACMG, and VCF annotation (GRCh38).

Mode of Inheritance detection with multiple datasets.

omim-cli — client for OMIM (Online Mendelian Inheritance in Man), not official

AI-powered rare disease diagnosis engine that maps your symptoms to diseases and genes using knowledge graphs and machine learning — because 7 years is too long to wait for an answer.