Automated Author Profile

Biobank Japan Project, The

,

Current S-Index

0.8

Sum of Dataset Indices for all datasets

Average Dataset Index per Dataset

0.8

Average Dataset Index per dataset

Total Datasets

1

Total datasets for this author

Average FAIR Score

69.2%

Average FAIR Score per dataset

Total Citations

1

Total citations to the author's datasets

Total Mentions

0

Total mentions of the author's datasets

S-Index Interpretation

S-Index Over Time

Cumulative Citations Over Time

Cumulative Mentions Over Time

Datasets

A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants (Version: 2)

Underrepresentation of non-European populations hinders growth of global precision medicine. Resources such as imputation reference panels that match the study population are necessary to find low-frequency variants with substantial effects. We created a reference panel consisting of 14,393 whole-genome sequences including more than 11,000 Asian individuals. Genome-wide association studies were conducted using the reference panel and a population-specific genotype array of 72K subjects for eight phenotypes. This panel yields improved imputation accuracy of rare and low-frequency variants within East Asian populations compared with the largest reference panel. Thirty-nine previously unidentified associations were found, and more than half of the variants were East-Asian-specific. We discovered genes with rare protein-altering variants, including LTBP1 for height and GPR75 for body mass index, as well as putative regulatory mechanisms for rare noncoding variants with cell-type-specific effects. We suggest this data set will add to the potential value of Asian precision medicine.

Authors

  • Choi, Jaeyong ;
  • Kim, Sungjae ;
  • Kim, Juhyun ;
  • Son, Ho-Young ;
  • Yoo, Seong-Keun ;
  • Kim, Chang-Uk ;
  • Park, Young Jun ;
  • Moon, Sungji ;
  • Cha, Bukyoung ;
  • Jeon, Min Chul ;
  • Park, Kyunghyuk ;
  • Yun, Jae Moon ;
  • Cho, Belong ;
  • Kim, Namcheol ;
  • Kim, Changhoon ;
  • Kwon, Nak-Jung ;
  • Park, Young Joo ;
  • Matsuda, Fumihiko ;
  • Momozawa, Yukihide ;
  • Kubo, Michiaki ;
  • Biobank Japan Project, The ;
  • Kim, Hyun-Jin ;
  • Park, Jin-Ho ;
  • Seo, Jeong-Sun ;
  • Kim, Jong-Il ;
  • Im, Sun-Wha
1 Citation0 Mentions69% FAIR0.8 Dataset Index
10.5061/dryad.ncjsxkt112023