人類学演習・談話会
Utilizing whole-genome sequencing (WGS) data to understand genetic characteristics and enhance future genetic analysis in the Japanese population
Dr. Xiaoxi Liu（ 理化学研究所（理研）生命医科学研究センター）
2024年06月14日(金) 16:50-18:35 理学部2号館201号室
Whole-genome sequencing (WGS) datasets are invaluable resources for human genetic and biomedical research. Here, we generated the Japanese Encyclopedia of Whole-Genome/Exome Sequencing Library (JEWEL) — a high-depth WGS dataset comprises 3,256 individuals from various regions of Japan recruited through BioBank Japan (BBJ). An array of analyses was conducted to understand the genetic characteristics of the Japanese population. In particular, the analysis indicated a possible tri-ancestral origin of the Japanese population. We also examined the genetic legacy of Neanderthals and Denisovans, and evaluated their phenotypic impacts on present-day Japanese people. Based on JEWEL, we constructed a Japanese-specific imputation reference panel and analyzed 63 quantitative traits. Through fine-mapping analysis, we observed that the putative causal variants are not always the primary variants at the loci; instead, they tend to be rare, functional coding or non-coding variants in medically relevant genes or tissues, and are specific to the Japanese population. Finally, we sequenced an additional 4,216 Japanese individuals at low depth (3x) and constructed a mixed-depth reference panel (JEWEL 7K). Benchmarking demonstrated significant improvements in imputation quality, particularly for rare variants. In summary, the WGS datasets generated will serve as valuable references for future genetic research, both within and beyond the Japanese population.
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＜今後の予定＞
6月 21日 中村 沙絵 先生(井原)
28日 下釜 和也 先生(近藤)
7月 5日 箭内 匡 先生(井原)
12日 森田 航 先生
