[HTML][HTML] Characterizing rare and low-frequency height-associated variants in the Japanese population

M Akiyama, K Ishigaki, S Sakaue, Y Momozawa… - Nature …, 2019 - nature.com
Human height is a representative phenotype to elucidate genetic architecture. However, the
majority of large studies have been performed in European population. To investigate the …

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Y Luo, M Kanai, W Choi, X Li, S Sakaue, K Yamamoto… - Nature …, 2021 - nature.com
Fine-mapping to plausible causal variation may be more effective in multi-ancestry cohorts,
particularly in the MHC, which has population-specific structure. To enable such studies, we …

[HTML][HTML] 3.5 KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

S Tadaka, F Katsuoka, M Ueki, K Kojima… - Human Genome …, 2019 - nature.com
The first step towards realizing personalized healthcare is to catalog the genetic variations in
a population. Since the dissemination of individual-level genomic information is strictly …

[HTML][HTML] Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

PK Cong, WY Bai, JC Li, MY Yang… - Nature …, 2022 - nature.com
Abstract We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-
genome sequencing (WGS) individuals and 5,841 high-density genotyping individuals, and …

[HTML][HTML] A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

J Lee, J Lee, S Jeon, J Lee, I Jang, JO Yang… - … & Molecular Medicine, 2022 - nature.com
Despite substantial advances in disease genetics, studies to date have largely focused on
individuals of European descent. This limits further discoveries of novel functional genetic …

The evolution of skin pigmentation-associated variation in West Eurasia

D Ju, I Mathieson - Proceedings of the National Academy of …, 2021 - National Acad Sciences
Skin pigmentation is a classic example of a polygenic trait that has experienced directional
selection in humans. Genome-wide association studies have identified well over a hundred …

GWAS of 165,084 Japanese individuals identified nine loci associated with dietary habits

N Matoba, M Akiyama, K Ishigaki, M Kanai… - Nature human …, 2020 - nature.com
Dietary habits are important factors in our lifestyle, and confer both susceptibility to and
protection from a variety of human diseases. We performed genome-wide association …

[HTML][HTML] Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction

S Sakaue, J Hirata, M Kanai, K Suzuki… - Nature …, 2020 - nature.com
The diversity in our genome is crucial to understanding the demographic history of
worldwide populations. However, we have yet to know whether subtle genetic differences …

[HTML][HTML] Pan-cancer and cross-population genome-wide association studies dissect shared genetic backgrounds underlying carcinogenesis

G Sato, Y Shirai, S Namba, R Edahiro… - Nature …, 2023 - nature.com
Integrating genomic data of multiple cancers allows de novo cancer grouping and
elucidating the shared genetic basis across cancers. Here, we conduct the pan-cancer and …

Korean Genome Project: 1094 Korean personal genomes with clinical information

S Jeon, Y Bhak, Y Choi, Y Jeon, S Kim, J Jang… - Science …, 2020 - science.org
We present the initial phase of the Korean Genome Project (Korea1K), including 1094 whole
genomes (sequenced at an average depth of 31×), along with data of 79 quantitative clinical …