rare-diseases

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

Multi-source germline variant annotation pipeline

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.

AI Atlas for the World's Rare Diseases. Evidence graph connecting genes, phenotypes, repurposed therapeutics, and clinical trials.

FoetoLookup — Open-source fetopathology syndrome knowledge base & retrieval pipeline (BioLORD, HPO, RRF convergence matrix)

AI Atlas for the World's Rare Diseases. Evidence graph connecting genes, phenotypes, repurposed therapeutics, and clinical trials.

GATK-based WES pipeline for variant calling and ACMG classification of rare disease cohorts (Wilson's, ASD, EEP, DMD) at CSIR-IGIB

AI Bones fractures detection led to using AI for rare diseases diagnosis. ארז-יהלומי

AI-Powered Drug Repurposing Engine Built on AlphaFold's Open Data — identifies FDA-approved drugs with repurposing potential for rare diseases

🧬 Fast, sourced help for families facing a rare disease — evidence-graded knowledge graph, built in 24 h at Hack-Nation 2026 (Challenge 05, Buffalo × OpenAI)

Research-only functional pathway medical knowledge graph for rare-disease differential-diagnosis research, pathway exclusion logic, and biomedical graph reasoning

This project collects and analyzes public Reddit posts from r/rarediseases to study patient and caregiver experiences related to rare diseases, including diagnosis status, symptoms, diagnostic journeys, treatment, and psychosocial impact.

Search and summarize PubMed literature on rare diseases, with code-enforced guardrails: every clinical claim traced to a real PMID.

Cardioimmunology Review by Dr Brahim Abdelouaeb (ORCID 0009-0002-7690-9993): open-access books, review articles and a map of the field in cardioimmunology, including the Treatise on Cardioimmunology, The Method and The Labs.