An unsupervised transfer learning approach for rare disease transcriptomics
Facial analysis framework for genetic disorders with facial dysmorphism
AI Diagnosis Assistant for Diagnosing Rare Diseases
Analysis of LLMs for Clinical Observations
A pipeline of ERKER data into the phenopackets data structure.
Research-only functional pathway medical knowledge graph for rare-disease differential-diagnosis research, pathway exclusion logic, and biomedical graph reasoning
AI-Powered Drug Repurposing Engine Built on AlphaFold's Open Data — identifies FDA-approved drugs with repurposing potential for rare diseases
"Clinical Bioinformatics pipeline for identifying CA2 gene mutation in Osteopetrosis using WES data."
GATK-based WES pipeline for variant calling and ACMG classification of rare disease cohorts (Wilson's, ASD, EEP, DMD) at CSIR-IGIB
AI-powered Rare Genetics Diagnostics Platform - Physician Support - iGEM 2025
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.
AI Bones fractures detection led to using AI for rare diseases diagnosis. ארז יהלומי
SRTI framework to perform variant calling and prioritization of WES
Amicus Therapeutics
This repository contains client libraries, modules and the portal for DNPM DIP.
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