RESEARCH
Our research focuses on developing tools for genetic analysis of whole genomes, applying these tools to predict disease risk in patients and elucidate the genetic factors associated with human diseases. In particular, we are pursuing three lines of research in the rapidly evolving fields of “precision medicine” and “genomic medicine. First, we are partnering with collaborators at medical centers across Taiwan and use the “full genome analysis” approach to study patients with rare diseases. “Full genome analysis” combines whole genome sequencing and genome mapping to produce phased and assembled genome sequences for patient diagnosis. Second, we are defining the genomic landscape of the Taiwan population by producing fully assembled genome sequences of several hundred people from across the country. With these high-quality reference genomes, we are establishing the haplotype patterns of the population at every locus across the genome. Third, we are partnering with medical centers across the country in the Taiwan Precision Medicine Initiative to obtain genetic profiles and clinical data of one million people and use the data to build algorithms for disease risk prediction in each individual. Once established, the algorithms can be used for disease risk prediction in all Han Chinese across the world.
研究介紹
我們的研究重點是開發用於全基因組遺傳分析的工具，應用這些工具來預測患者的疾病風險並闡明與人類疾病相關的遺傳因素。我們尤其著重在快速發展的“精準醫學”和“基因組醫學”領域進行三項研究。首先，我們與台灣各地醫療中心的遺傳疾病研究者合作，並使用“全基因組分析”方法來研究罕見疾病。“全基因組分析”結合了全基因組測序和基因組測繪，以產生可以用於患者診斷的分階段且組裝的基因組序列。其次，我們通過生產來自全國各地的數百人的完全組裝基因組序列，來定義台灣人口的基因組景觀。有了這些高質量的參考基因組，我們可以在整個基因組的每個位點建立群體的單倍型模式。第三，我們與台灣精準醫學計劃中的位於全國的各醫療中心合作，以獲取一百萬人的基因資訊及臨床數據，並利用這些數據構建每個人的疾病風險預測模組。一旦此風險模組得以順利建立，這個計算模型將可用於全球所有漢族人，來進行疾病風險預測。
