Tohoku University Tohoku Medical Megabank Organization (Shu Tadaka)
2021.03.05

1.   Nagaoka Shinichi, Yamaguchi-Kabata Yumi, Shiga Naomi, et al. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. Human Genome Variation. 2021; 8 (1): 2. doi:10.1038/s41439-020-00133-7  
2.   Kumondai Masaki, Ito Akio, Gutiérrez Rico Evelyn Marie, et al. Functional Assessment of 12 Rare Allelic CYP2C9 Variants Identified in a Population of 4773 Japanese Individuals. Journal of Personalized Medicine. 2021; 11 (2): 94. doi:10.3390/jpm11020094  
3.   Takayama Jun, Tadaka Shu, Yano Kenji, et al. Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference. Nature Communications. 2021; 12 (1): 226. doi:10.1038/s41467-020-20146-8  
4.   Tadaka Shu, Hishinuma Eiji, Komaki Shohei, et al. jMorp updates in 2020: large enhancement of multi-omics data resources on the general Japanese population. Nucleic Acids Research. 2021; 49 (D1): D536-D544. doi:10.1093/nar/gkaa1034  
5.   Tokunaga Hideki, Iida Keita, Hozawa Atsushi, et al. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PLOS ONE. 2021; 16 (1): e0236907. doi:10.1371/journal.pone.0236907  
6.   Koshiba Seizo, Motoike Ikuko N., Saigusa Daisuke, et al. Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population. Communications Biology. 2020; 3 (1): 662. doi:10.1038/s42003-020-01383-5  
7.   Okazaki Keito, Anzawa Hayato, Liu Zun, et al. Enhancer remodeling promotes tumor-initiating activity in NRF2-activated non-small cell lung cancers. Nature Communications. 2020; 11 (1): 5911. doi:10.1038/s41467-020-19593-0  
8.   Kojima Kaname, Tadaka Shu, Katsuoka Fumiki, et al. A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. PLOS Computational Biology. 2020; 16 (10): e1008207. doi:10.1371/journal.pcbi.1008207  
9.   Mori Minako, Hira Asuka, Yoshida Kenichi, et al. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019; 104 (10): 1962-1973. doi:10.3324/haematol.2018.207241  
10.   Yamaguchi-Kabata Yumi, Yasuda Jun, Uruno Akira, et al. Estimating carrier frequencies of newborn screening disorders using a whole-genome reference panel of 3552 Japanese individuals. Human Genetics. 2019; 138 (4): 389-409. doi:10.1007/s00439-019-01998-7  
11.   Tadaka Shu, Katsuoka Fumiki, Ueki Masao, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome. Human Genome Variation. 2019; 6 (1): 28. doi:10.1038/s41439-019-0059-5  
12.   Obayashi Takeshi, Kagaya Yuki, Aoki Yuichi, et al. COXPRESdb v7: a gene coexpression database for 11 animal species supported by 23 coexpression platforms for technical evaluation and evolutionary inference. Nucleic Acids Research. 2019; 47 (D1): D55-D62. doi:10.1093/nar/gky1155  
13.   Saigusa Daisuke, Matsukawa Naomi, Tadaka Shu, et al. Metabolome Analysis of Human Plasma by GC-MS/MS in a Large-scale Cohort. Proteome Letters. 2019; 4 (1): 31-40. doi:10.14889/jpros.4.1_31  
14.   Yasuda Jun, Kinoshita Kengo, Katsuoka Fumiki, et al. Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. The Journal of Biochemistry. 2019; 165 (2): 139-158. doi:10.1093/jb/mvy096  
15.   Yasuda Jun, Katsuoka Fumiki, Danjoh Inaho, et al. Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. BMC Genomics. 2018; 19 (1): 551. doi:10.1186/s12864-018-4942-0  
16.   Tadaka Shu, Saigusa Daisuke, Motoike Ikuko N., et al. jMorp: Japanese Multi Omics Reference Panel. Nucleic Acids Research. 2018; 46 (D1): D551-D557. doi:10.1093/nar/gkx978  
17.   Obayashi Takeshi, Aoki Yuichi, Tadaka Shu, et al. ATTED-II in 2018: A Plant Coexpression Database Based on Investigation of the Statistical Property of the Mutual Rank Index. Plant and Cell Physiology. 2018; 59 (1): e3-e3. doi:10.1093/pcp/pcx191