To diagnose and treatchildren with rare diseases in Koreais to treat children worldwide
By generating, analyzing, and utilizing consistent information across the life cycle of pediatric rare disease patients
Secure continuity of care and resolve service gaps in medical care
Build Dataset
Genomic Data Analysis
Diagnostics
Rare Disease Diagnosis
Treatment
Prescribe Disease Specific Treatments
Self-Care
Prognosis Management
Connection
Connecting the network of Seoul/capital region and regional centers. Developing efficient AI models through the national bio-big data project.
Curation
Generating stratified genes based on unique traits in 9 rare disease categories to improve accuracy of variant interpretation.
Continuum
Provide personalized application services to patients by monitoring side effects and treatment effects.
Customization
Clinical decision support for treatments, treatment protocols, clinical data analysis, and personalized treatment.
Early diagnosis with AI technology
Reduce cost for diagnosis, increase patient value Securing global competitiveness
Technical aspects
By advancing universal genetic variant analysis by AI technology, world-class artificial intelligence assisted genetic diagnosis technology was secured
Secure software that interprets and diagnoses 5 million genetic variants per patient based on an AI model.
Economic and industrial aspects
Securing AI-assisted genetic variant interpretation technology, which is a core competitive edge in the pediatric rare disease genetic diagnosis market.
By reducing the time and cost of WSG diagnostics by more than 90%, it enables pediatric rare disease patients to receive timely genetic diagnosis.
Social aspects
Resolving concentration in the metropolitan area by improving the diagnosis/treatment capabilities of regional base centers.
Automating and streamlining large-scale genomic analysis and interpretation to enable personalized treatment and prevent the over-use of social resources.
Disease-specific whole genome analysis for disease diagnosis and prevention
Develop and validate integrated AI solutions for diagnosis, treatment, and prognosis management
Dataset construction
Generating new data from a nationwide network Utilize vast amounts of data collected in advanceGenerate disease-specific genomic data using a nationwide network Integrated use of data generated and secured by participating institutions Utilizing WGS data secured through participation in the national bio big data project
Diagnostic SW
Developing diagnostic software that integrates disease-specific factors with an accurate deep learning-based AI modelProvide 3 types of AI model-based genetic variant analysis system Developed diagnostic SW based on virtual panel of 9 disease groups
Treatment SW
Providing customized treatment and clinical trial information based on patient health statusAutomatically collects and classifies treatment information using artificial intelligence technology Development of automatically curated treatment software through deep learning technology
Self-Care SW
Design of integrated prognosis management process for mobile devicesExpansion of pediatric rare disease data system through medical mydata platform Providing integrated services for prognosis management, counseling, and emergency coordination based on AI solutions utilizing patient symptom data
Consortium
Domestic tertiary hospitals and healthcare companies are collaborating on this project.