Tohoku University Tohoku Medical Megabank Organization (Jun Yasuda)
2020.02.21

1.   Hozawa Atsushi, Tanno Kozo, Nakaya Naoki, et al. Study profile of The Tohoku Medical Megabank Community-Based Cohort Study. Journal of epidemiology. 2020; : . doi:10.2188/jea.JE20190271  
2.   Takahashi Yuta, Takeuchi Hikaru, Sakai Mai, et al. A single nucleotide polymorphism (-250 A/C) of the GFAP gene is associated with brain structures and cerebral blood flow. Psychiatry and clinical neurosciences. 2020; 74 (1): 49-55. doi:10.1111/pcn.12932  
3.   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  
4.   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  
5.   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  
6.   Nagasaki Masao, Kuroki Yoko, Shibata Tomoko F, et al. Construction of JRG (Japanese reference genome) with single-molecule real-time sequencing. Human Genome Variation. 2019; 6 (1): 27. doi:10.1038/s41439-019-0057-7  
7.   Kuriyama Shinichi, Metoki Hirohito, Kikuya Masahiro, et al. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): Rationale, Progress and Perspective. International Journal of Epidemiology. 2019; : . doi:10.1093/ije/dyz169  
8.   Kakuta Yoichi, Kawai Yosuke, Naito Takeo, et al. A Genome-wide Association Study Identifying RAP1A as a Novel Susceptibility Gene for Crohn’s Disease in Japanese Individuals. Journal of Crohn's and Colitis. 2019; 13 (5): 648-658. doi:10.1093/ecco-jcc/jjy197  
9.   Kiniwa Yukiko, Yasuda Jun, Saito Sakae, et al. Identification of genetic alterations in extramammary Paget disease using whole exome analysis. Journal of Dermatological Science. 2019; 94 (1): 229-235. doi:10.1016/j.jdermsci.2019.03.006  
10.   Amano Yuji, Akazawa Yohei, Yasuda Jun, et al. A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease. Pediatric rheumatology online journal. 2019; 17 (1): 34. doi:10.1186/s12969-019-0337-2  
11.   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  
12.   Mimori Takahiro, Yasuda Jun, Kuroki Yoko, et al. Construction of full-length Japanese reference panel of class I HLA genes with single-molecule, real-time sequencing. The Pharmacogenomics Journal. 2019; 19 (2): 136-146. doi:10.1038/s41397-017-0010-4  
13.   Watanabe Takashi, Saito Takahiro, Rico Evelyn Marie Gutiérrez, et al. Functional characterization of 40 CYP2B6 allelic variants by assessing efavirenz 8-hydroxylation. Biochemical Pharmacology. 2018; 156 : 420-430. doi:10.1016/j.bcp.2018.09.010  
14.   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  
15.   Tanikawa Chizu, Kamatani Yoichiro, Takahashi Atsushi, et al. GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12. Carcinogenesis. 2018; 39 (5): 652-660. doi:10.1093/carcin/bgy026  
16.   Hishinuma Eiji, Narita Yoko, Saito Sakae, et al. Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals. Drug Metabolism and Disposition. 2018; 46 (8): 1083-1090. doi:10.1124/dmd.118.081737  
17.   Kumondai Masaki, Ito Akio, Hishinuma Eiji, et al. Development and application of a rapid and sensitive genotyping method for pharmacogene variants using the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS). Drug Metabolism and Pharmacokinetics. 2018; 33 (6): 258-263. doi:10.1016/j.dmpk.2018.08.003  
18.   Koshiba Seizo, Motoike Ikuko, Saigusa Daisuke, et al. Omics research project on prospective cohort studies from the Tohoku Medical Megabank Project. Genes to Cells. 2018; 23 (6): 406-417. doi:10.1111/gtc.12588  
19.   Shibuya Yusuke, Tokunaga Hideki, Saito Sakae, et al. Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing. Genes, Chromosomes and Cancer. 2018; 57 (2): 51-60. doi:10.1002/gcc.22507  
20.   Yamaguchi-Kabata Yumi, Yasuda Jun, Tanabe Osamu, et al. Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals. Journal of Human Genetics. 2018; 63 (2): 213-230. doi:10.1038/s10038-017-0347-1  
21.   Nishioka Masaki, Bundo Miki, Ueda Junko, et al. Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders. Psychiatry and Clinical Neurosciences. 2018; 72 (4): 280-294. doi:10.1111/pcn.12632  
22.   Sakai Mai, Takeuchi Hikaru, Yu Zhiqian, et al. Polymorphisms in the microglial marker molecule CX3CR1 affect the blood volume of the human brain. Psychiatry and clinical neurosciences. 2018; 72 (6): 409-422. doi:10.1111/pcn.12649  
23.   Kumada Kazuki, Yasuda Jun. Evolutionary acquired robustness and vulnerability in cancer genome: negligible negative selection in carcinogenesis. Translational Cancer Research. 2018; 7 (S4): S445-S448. doi:10.21037/tcr.2018.02.15  
24.   Pan Xiaoqing, Nariai Naoki, Fukuhara Noriko, et al. Monitoring of minimal residual disease in early T-cell precursor acute lymphoblastic leukaemia by next-generation sequencing. British Journal of Haematology. 2017; 176 (2): 318-321. doi:10.1111/bjh.13948  
25.   Matsuura Kentaro, Sawai Hiromi, Ikeo Kazuho, et al. Genome-wide Association Study Identifies TLL1 Variant Associated With Development of Hepatocellular Carcinoma After Eradication of Hepatitis C Virus Infection. Gastroenterology. 2017; 152 (6): 1383-1394. doi:10.1053/j.gastro.2017.01.041  
26.   Hamanaka Teruhiko, Kimura Masae, Sakurai Tetsuro, et al. A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients. Investigative Opthalmology & Visual Science. 2017; 58 (5): 2818. doi:10.1167/iovs.16-20646  
27.   Hachiya Tsuyoshi, Furukawa Ryohei, Shiwa Yuh, et al. Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies. npj Genomic Medicine. 2017; 2 (1): 11. doi:10.1038/s41525-017-0016-5  
28.   Shiga Yukihiro, Nishiguchi Koji M., Kawai Yosuke, et al. Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7. PLOS ONE. 2017; 12 (12): e0186678. doi:10.1371/journal.pone.0186678  
29.   Kuriyama Shinichi, Yaegashi Nobuo, Nagami Fuji, et al. The Tohoku Medical Megabank Project: Design and Mission. Journal of Epidemiology. 2016; 26 (9): 493-511. doi:10.2188/jea.JE20150268  
30.   Kohda Masakazu, Tokuzawa Yoshimi, Kishita Yoshihito, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLOS Genetics. 2016; 12 (1): e1005679. doi:10.1371/journal.pgen.1005679  
31.   Saigusa Daisuke, Okamura Yasunobu, Motoike Ikuko N., et al. Establishment of Protocols for Global Metabolomics by LC-MS for Biomarker Discovery. PLOS ONE. 2016; 11 (8): e0160555. doi:10.1371/journal.pone.0160555  
32.   Koshiba Seizo, Motoike Ikuko, Kojima Kaname, et al. The structural origin of metabolic quantitative diversity. Scientific Reports. 2016; 6 (1): 31463. doi:10.1038/srep31463  
33.   Nariai Naoki, Kojima Kaname, Saito Sakae, et al. HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. BMC Genomics. 2015; 16 ((Suppl 2):S7): . http://www.biomedcentral.com/qc/1471-2164/16/S2/S7  
34.   Yamaguchi-Kabata Yumi, Nariai Naoki, Kawai Yosuke, et al. iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing. Human Genome Variation. 2015; 2 : 15050. doi:10.1038/hgv.2015.50  
35.   Kawai Yosuke, Mimori Takahiro, Kojima Kaname, et al. Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. Journal of Human Genetics. 2015; 60 (10): 581-587. doi:10.1038/jhg.2015.68  
36.   Nagasaki Masao, Yasuda Jun, Katsuoka Fumiki, et al. Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nature communications. 2015; 6 : 8018. doi:10.1038/ncomms9018  
37.   Katsuoka Fumiki, Yokozawa Junji, Tsuda Kaoru, et al. An efficient quantitation method of next-generation sequencing libraries by using MiSeq sequencer. Analytical Biochemistry. 2014; 466 (466C): 27-29. doi:10.1016/j.ab.2014.08.015  
38.   Motoike Ikuko N, Matsumoto Mitsuyo, Danjoh Inaho, et al. Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population. BMC genomics. 2014; 15 : 673. doi:10.1186/1471-2164-15-673  
39.   布施 昇男、清水 愛、木村 雅恵、高野 良真、石 棟、宮澤 晃子、国松 志保、劉 孟林、渡邊 亮、安田 正幸、横山 悠、檜森 紀子、津田 聡、山本 耕太郎、中澤 徹、安田 純、勝岡 史城、小島 要、成相 直樹、松本 光代、元池 育子、長崎 正朗、木下 賢吾、五十嵐 和彦、山本 雅之、新堀 哲也、青木 洋子、松原 洋一、舟山 亮、長嶋 剛史、中山 啓子、眞島 行彦、舟山 智代、田中 光一、原田 高幸、阿部 春樹、福地 健郎、安田 典子、出田 秀尚、鄭 暁東、白石 敦、大橋 祐一、石田 誠夫、原 岳、金森 章. 緑内障のゲノム解析―次世代医療•個別化医療に向けて. 日本眼科学会雑誌. 2013; 118 ((3)): 216-240.