1. Core Laboratory of Population Genetic Polymorphisms 族群遺傳核心實驗室 負責人：陳為堅 于明暉 National Taiwan University Center for Genomic Medicine 台大基因體醫學中心

2. Rationale Population-based epidemiological studies to unravel the genetics of complex diseases Linkage analysis vs. association study Research strategies Either candidate gene approach or genome- wide screen Either candidate gene approach or genome- wide screen Single nucleotide polymorphism (SNP) Single nucleotide polymorphism (SNP) L arge-scale population-based association studies L arge-scale population-based association studies

3. Overall Goal To establish a system for recruiting a large number of individuals with DNA and phenotypic data that will be useful for future genetic dissection of complex diseases

4. Specific Aims 200,000 blood samples and questionnaire data collection DNA bank establishment Specific genetic variants identification Examination of association between various diseases and specific genetic markers

5. Methodology Subjects recruitment Biospecimen bank Data collection and management Follow-up Data linkage with National Health Insurance Database Data linkage with National Health Insurance Database

6. Lab Facility Controlled Rate Freezing System and Liquid Nitrogen Storage System ( 微電腦控 制自動充填液態氮保存系統 ) Forma Scientific, Bioway 7460 Forma Scientific, Bioway 7460 -70˚C Freezer Database National Mortality Database National Mortality Database Cancer Registry Database Cancer Registry Database National Health Insurance Database National Health Insurance Database

8. Interaction with Other Labs Interaction with Laboratory of Bioinformatics Handling of massive data and Extraction of information from the large-scale population database Handling of massive data and Extraction of information from the large-scale population database Interaction with Laboratory of Microarray and Gene Chip DNA subjected to genotyping DNA subjected to genotyping Interaction with Other Laboratory Relevant analyses of genes Relevant analyses of genes

9. Lab Services Long-term storage and computerized management of DNA In liquid nitrogen tank In liquid nitrogen tank DNA extraction training for research assistants Good quality that lasts long Good quality that lasts long Linkage between large-scale database systems Mortality Database, Cancer Registry Database, National Health Insurance Database Mortality Database, Cancer Registry Database, National Health Insurance Database

10. Significance of Lab Quantifying the impact of various genetic variants on the risk of disease in terms of attributable risks in different ethnic groups Assessing the validity of new genetic tests in different ethnic groups Evaluating the impact of genetic tests on morbidity, mortality and cost in different ethnic groups