A Genomic and Pharmaceutical Knowledge-based System for Clinical Diagnosis and Case Repository
Professor Lam, Tak Wah (Project coordinator)
Genomic and Pharmaceutical Knowledge-based System, Clinical Diagnosis and Case Repository
Others - Computing Science and Information Technology
HKU Project Code
Guangdong-Hong Kong Technology Cooperation Funding Scheme
1. An efficient software system for performing comparative analysis of large-scale sequencing data for clinical diagnosis applications. The system will exploit multiple GPUs to re-assemble sequencing raw data (billions of short fragments) for detection of disease-related mutations (e.g., structural variation, somatic and pedigree mutation, and linkage disequilibrium). It is based on successful fundamental research results of HKU. New algorithms will be developed for adapting to the setting of clinical diagnosis, and more importantly, for the soon-coming third-generation sequencing technologies. 2. A novel clinical diagnosis platform for doctors’ use. It generates diagnosis results and provides possible therapeutic recommendations. Inference logic will be developed to infer diagnosis reports, in medical domain terminology comprehensible by doctors, based on the analysis of genome sequencing data and known knowledge bases of diseases and drugs. 3. A supporting database for storing validated genomic and pharmaceutical knowledge. It integrates many separate databases for diseases and drugs, e.g., databases relating rare variants to disease risks, databases of oncogenes and tumor suppressor genes, and databases of drugs for targeted variants, etc. The purpose of this database is to support the clinical diagnosis system. 4. Pilot projects with supporting parties to prove the feasibility of the developed system.