A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants

J Choi, S Kim, J Kim, HY Son, SK Yoo, CU Kim… - Science …, 2023 - science.org
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …

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 …

Sex differences in the genetic architecture of depression

HJ Kang, Y Park, KH Yoo, KT Kim, ES Kim, JW Kim… - Scientific Reports, 2020 - nature.com
The prevalence and clinical characteristics of depressive disorders differ between women
and men; however, the genetic contribution to sex differences in depressive disorders has …

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes

K Kojima, S Tadaka, Y Okamura… - Journal of Human …, 2024 - nature.com
Widely used genotype imputation methods are based on the Li and Stephens model, which
assumes that new haplotypes can be represented by modifying existing haplotypes in a …

SEAD reference panel with 22,134 haplotypes boosts rare variant imputation and genome-wide association analysis in Asian populations

MY Yang, JD Zhong, X Li, G Tian, WY Bai… - Nature …, 2024 - nature.com
Limited whole genome sequencing (WGS) studies in Asian populations result in a lack of
representative reference panels, thus hindering the discovery of ancestry-specific variants …

Natural selection signatures in the Hondo and Ryukyu Japanese subpopulations

X Liu, M Matsunami, M Horikoshi, S Ito… - Molecular Biology …, 2023 - academic.oup.com
Natural selection signatures across Japanese subpopulations are under-explored. Here we
conducted genome-wide selection scans with 622,926 single nucleotide polymorphisms for …

The ChinaMAP reference panel for the accurate genotype imputation in Chinese populations

L Li, P Huang, X Sun, S Wang, M Xu, S Liu, Z Feng… - Cell Research, 2021 - nature.com
Dear Editor, The genotype imputation is an efficient and pivotal approach to estimate the
unobserved genotypes in the genomic data from the single nucleotide polymorphism (SNP) …

[HTML][HTML] Genotype imputation in human genomic studies

AA Berdnikova, IV Zorkoltseva… - Vavilov Journal of …, 2024 - pmc.ncbi.nlm.nih.gov
Imputation is a method that supplies missing information about genetic variants that could
not be directly genotyped with DNA microarrays or low-coverage sequencing. Imputation …

Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator

M Yamada, IN Motoike, K Kojima, N Fuse… - Communications …, 2021 - nature.com
Lung function reflects the ability of the respiratory system and is utilized for the assessment
of respiratory diseases. Because type 2 airway inflammation influences lung function …

A single-cell atlas of in vitro multiculture systems uncovers the in vivo lineage trajectory and cell state in the human lung

W Lee, S Lee, JK Yoon, D Lee, Y Kim, YB Han… - … & Molecular Medicine, 2023 - nature.com
We present an in-depth single-cell atlas of in vitro multiculture systems on human primary
airway epithelium derived from normal and diseased lungs of 27 individual donors. Our …