An unsupervised transfer learning approach for rare disease transcriptomics
LOVD3 development repository
Facial analysis framework for genetic disorders with facial dysmorphism
Analysis of LLMs for Clinical Observations
AI Diagnosis Assistant for Diagnosing Rare Diseases
MRareBench is a multimodal benchmark for evaluating rare-disease diagnosis and patient-specific visual evidence grounding across diverse medical imaging modalities.
A pipeline of ERKER data into the phenopackets data structure.
Multi-source germline variant annotation pipeline
GATK-based WES pipeline for variant calling and ACMG classification of rare disease cohorts (Wilson's, ASD, EEP, DMD) at CSIR-IGIB
AI-Powered Drug Repurposing Engine Built on AlphaFold's Open Data — identifies FDA-approved drugs with repurposing potential for rare diseases
AI Bones fractures detection led to using AI for rare diseases diagnosis. ארז-יהלומי
Research-only functional pathway medical knowledge graph for rare-disease differential-diagnosis research, pathway exclusion logic, and biomedical graph reasoning
Generates therapeutic repurposing hypotheses for rare monogenic diseases from open data, running fully locally. Computational research hypotheses, not medical advice.
AI-powered Rare Genetics Diagnostics Platform - Physician Support - iGEM 2025
TinyDx — Rare Disease Diagnostic Navigator MCP Server. FHIR-native, HPO-powered, family-facing. Built for Agents Assemble Healthcare AI Hackathon.
"Clinical Bioinformatics pipeline for identifying CA2 gene mutation in Osteopetrosis using WES data."
Sayre Therapeutics — independent third-party profile of a public API surface, by API Evangelist. Sayre Therapeutics is a healthcare company founded in 2015 that brings innovative treatments for rare, orphan, and life-threatening diseases to India and the broader SAARC region. It works across clinical research, regulatory strategy, and commercializa
To associate your repository with the rare-diseases topic, visit your repo's landing page and select "manage topics."