專題演講 主講人：馮嬿臻教授(台大流行病學與預防醫學研究所)
題 目：Human genetics research at scale: opportunities, challenges, and its translational impact
主講人：馮嬿臻教授(台大流行病學與預防醫學研究所)
時 間：110年11月19日(星期五)上午10:40-11:30
(上午10:20-10:40茶會於交大統計所428室舉行)
地 點：綜合一館427室
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摘要
Large-scale genetic analysis has transformed our understanding of human health and diseases. Over the past decade, disease-enriched cohorts have empowered common and rare-variant association studies to identify DNA sequence variants underlying Mendelian and complex traits and diseases. More recently, the emergence of biobanks that contains a rich spectrum of phenotypic information provides an unparalleled opportunity for epidemiological and genetic research to advance genetic discovery towards precision medicine. In this talk, I will present the work I undertook that falls under each of these two paradigms, including an international collaborative to study the ultra-rare deleterious variation for different forms of epilepsy and how it converges with GWAS findings, as well as a deep investigation into the genetic architecture of age of onset and its genomic relationship with disease susceptibility in the UK Biobank and the FinnGen cohort.
