报告学者：苑锴 博士

报告者单位：麻省总医院/哈佛医学院

报告时间：2024年11月21日上午10:10-11:30

报告地点：思源楼102

报告摘要：Genome-wide association studies (GWAS) of human complex traits or diseases often implicate genetic loci that span hundreds or thousands of genetic variants, many of which have similar statistical significance. While statistical fine-mapping in individuals of European ancestry has made important discoveries, cross-population fine-mapping has the potential to improve power and resolution by capitalizing on the genomic diversity across ancestries. Here we present SuSiEx, an accurate and computationally efficient method for cross-population fine-mapping. SuSiEx integrates data from an arbitrary number of ancestries, explicitly models population-specific allele frequencies and linkage disequilibrium patterns, accounts for multiple causal variants in a genomic region and can be applied to GWAS summary statistics. We comprehensively assessed the performance of SuSiEx using simulations. We further showed that SuSiEx improves the fine-mapping of a range of quantitative traits available in both the UK Biobank and Taiwan Biobank, and improves the fine-mapping of schizophrenia-associated loci by integrating GWAS across East Asian and European ancestries.

报告学者简介：苑锴是麻省总医院（Massachusetts General Hospital）和哈佛医学院（Harvard Medical School）医学系的讲师（Instructor），导师为黄海亮博士和葛天博士。他于中国科学院计算生物学伙伴研究所（Partner Institute for Computational Biology, PICB）获得计算生物学博士学位，师从徐书华教授。苑锴的研究专注于开发创新的统计遗传学方法，结合进化遗传学模型与统计遗传学工具，以更深入地理解人类复杂疾病，尤其是精神疾病和炎症性肠病。他近期开发了SuSiEx，一种跨种族的精细定位（fine-mapping）方法。该方法通过整合多族裔的遗传数据，显著提高了精细定位的准确性和精度。苑锴作为第一作者或共同第一作者，在Nature Genetics、Nature Communications和American Journal of Human Genetics等顶级期刊上发表了多篇论文。作为青年研究者，他曾荣获ASHG/Charles J. Epstein人类遗传学奖，并获得美国国立精神卫生研究所（NIMH）的K99/R00独立研究基金资助。