Tohoku University Tohoku Medical Megabank Organization (Shu Tadaka)
2025.05.21

1.   Ohneda Kinuko, Suzuki Yoichi, Hamanaka Yohei, et al. Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan. Journal of Human Genetics. 2025; 70 (3): 147-157. doi:10.1038/s10038-024-01314-w  
2.   Nakatochi Masahiro, Kushima Itaru, Aleksic Branko, et al. Copy number variations in RNF216 and postsynaptic membrane–associated genes are associated with bipolar disorder: a case‐control study in the Japanese population. Psychiatry and Clinical Neurosciences. 2025; 79 (1): 12-20. doi:10.1111/pcn.13752  
3.   Yamazaki Shuki, Hishinuma Eiji, Suzuki Yuma, et al. Functional significance of CYP2B6 gene rare allelic variants identified in Japanese individuals. Biochemical Pharmacology. 2024; 229 : 116515. doi:10.1016/j.bcp.2024.116515  
4.   Inamori Kei-ichiro, Nakamura Katsuya, Shishido Fumi, et al. Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population. Frontiers in Neuroscience. 2024; 18 : . doi:10.3389/fnins.2024.1437668  
5.   Suzuki Tomohisa, Ninomiya Kota, Funayama Takamitsu, et al. Next-generation sequencing analysis with a population-specific human reference genome. Genes & Genetic Systems. 2024; 99 : 24-00112. doi:10.1266/ggs.24-00112  
6.   Kojima Kaname, Tadaka Shu, Okamura Yasunobu, Kinoshita Kengo. Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes. Journal of Human Genetics. 2024; 69 (10): 511-518. doi:10.1038/s10038-024-01261-6  
7.   Tadaka Shu, Kawashima Junko, Hishinuma Eiji, et al. jMorp: Japanese Multi-Omics Reference Panel update report 2023. Nucleic Acids Research. 2024; 52 (D1): D622-D632. doi:10.1093/nar/gkad978  
8.   Sakurai Miyuki, Motoike Ikuko N., Hishinuma Eiji, et al. Identifying critical age and gender-based metabolomic shifts in a Japanese population of the Tohoku Medical Megabank cohort. Scientific Reports. 2024; 14 (1): 15681. doi:10.1038/s41598-024-66180-0  
9.   Hishinuma Eiji, Narita Yoko, Rico Evelyn Marie Gutiérrez, et al. Functional Characterization of 12 Dihydropyrimidinase Allelic Variants in Japanese Individuals for the Prediction of 5-Fluorouracil Treatment-Related Toxicity. Drug Metabolism and Disposition. 2023; 51 (2): 165-173. doi:10.1124/dmd.122.001045  
10.   Sato Yu, Hishinuma Eiji, Yamazaki Shuki, et al. Functional Characterization of 29 Cytochrome P450 4F2 Variants Identified in a Population of 8380 Japanese Subjects and Assessment of Arachidonic Acid ω -Hydroxylation. Drug Metabolism and Disposition. 2023; 51 (12): 1561-1568. doi:10.1124/dmd.123.001389  
11.   Otsuki Akihito, Okamura Yasunobu, Ishida Noriko, et al. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology. Communications Biology. 2022; 5 (1): 991. doi:10.1038/s42003-022-03953-1  
12.   Hishinuma Eiji, Narita Yoko, Obuchi Kai, et al. Importance of Rare DPYD Genetic Polymorphisms for 5-Fluorouracil Therapy in the Japanese Population. Frontiers in Pharmacology. 2022; 13 : . doi:10.3389/fphar.2022.930470  
13.   Shiga Naomi, Yamaguchi-Kabata Yumi, Igeta Saori, et al. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. Human Genome Variation. 2022; 9 (1): 34. doi:10.1038/s41439-022-00213-w  
14.   Ohneda Kinuko, Hiratsuka Masahiro, Kawame Hiroshi, et al. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. JMA Journal. 2022; 5 (2): . doi:10.31662/jmaj.2021-0156  
15.   Yamada Mitsuhiro, Motoike Ikuko N., Kojima Kaname, et al. Genetic loci for lung function in Japanese adults with adjustment for exhaled nitric oxide levels as airway inflammation indicator. Communications Biology. 2021; 4 (1): 1288. doi:10.1038/s42003-021-02813-8  
16.   Kumondai Masaki, Gutiérrez Rico Evelyn Marie, Hishinuma Eiji, et al. Functional Characterization of 40 CYP3A4 Variants by Assessing Midazolam 1′-Hydroxylation and Testosterone 6 β -Hydroxylation. Drug Metabolism and Disposition. 2021; 49 (3): 212-220. doi:10.1124/dmd.120.000261  
17.   Ogishima Soichi, Nagaie Satoshi, Mizuno Satoshi, et al. dbTMM: an integrated database of large-scale cohort, genome and clinical data for the Tohoku Medical Megabank Project. Human Genome Variation. 2021; 8 (1): 44. doi:10.1038/s41439-021-00175-5  
18.   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  
19.   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  
20.   Kumondai Masaki, Gutiérrez Rico Evelyn, Hishinuma Eiji, et al. Functional Characterization of 21 Rare Allelic CYP1A2 Variants Identified in a Population of 4773 Japanese Individuals by Assessing Phenacetin O-Deethylation. Journal of Personalized Medicine. 2021; 11 (8): 690. doi:10.3390/jpm11080690  
21.   Saigusa Daisuke, Hishinuma Eiji, Matsukawa Naomi, et al. Comparison of Kit-Based Metabolomics with Other Methodologies in a Large Cohort, towards Establishing Reference Values. Metabolites. 2021; 11 (10): 652. doi:10.3390/metabo11100652  
22.   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  
23.   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  
24.   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  
25.   Sakurai-Yageta Mika, Kumada Kazuki, Gocho Chinatsu, et al. Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. The Journal of Biochemistry. 2021; 170 (3): 399-410. doi:10.1093/jb/mvab060  
26.   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  
27.   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  
28.   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  
29.   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  
30.   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  
31.   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  
32.   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  
33.   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  
34.   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  
35.   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  
36.   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  
37.   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