Tohoku University Tohoku Medical Megabank Organization (Jun Yasuda)
2019.09.20

1.   Mori Minako, Hira Asuka, Yoshida Kenichi, et al. Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients. Haematologica. 2019; : haematol.2018.207241. doi:10.3324/haematol.2018.207241  
2.   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  
3.   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  
4.   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  
5.   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  
6.   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  
7.   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  
8.   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  
9.   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  
10.   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  
11.   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  
12.   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  
13.   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  
14.   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  
15.   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  
16.   Shibuya Yusuke, Tokunaga Hideki, Saito Sakae, et al. Identification of somatic genetic alterations in ovarian clear cell carcinoma with next generation sequencing. Genes, chromosomes & cancer. 2018; 57 (2): 51-60. doi:10.1002/gcc.22507  
17.   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  
18.   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  
19.   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  
20.   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  
21.   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  
22.   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  
23.   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  
24.   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  
25.   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  
26.   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  
27.   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  
28.   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  
29.   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  
30.   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  
31.   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  
32.   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  
33.   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  
34.   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  
35.   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  
36.   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  
37.   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  
38.   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.