Speaker:Prof. Yen-Chen Feng (Institute of Epidemiology and Preventive Medicine, NTU)
Topic:Human genetics research at scale: opportunities, challenges, and its translational impact
Speaker:Prof. Yen-Chen Feng (Institute of Epidemiology and Preventive Medicine, NTU)
Date Time:FRI. Nov 19, 2021, 10:40 AM - 11:30 AM
Place: 4F-427, Assembly Building I
Online Seminars- Google Meet
https://meet.google.com/xcu-vcbo-dsx
https://meet.google.com/xcu-vcbo-dsx
Abstract
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.