Tohoku University Tohoku Medical Megabank Organization (Kaname Kojima)
2019.09.13

1.   Hitomi Yuki, Nakatani Ken, Kojima Kaname, et al. NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants. Cellular and molecular gastroenterology and hepatology. 2019; 7 (3): 515-532. doi:10.1016/j.jcmgh.2018.11.006  
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.   Shido Kosuke, Kojima Kaname, Yamasaki Kenshi, et al. Susceptibility Loci for Tanning Ability in the Japanese Population Identified by a Genome-Wide Association Study from the Tohoku Medical Megabank Project Cohort Study. Journal of Investigative Dermatology. 2019; 139 (7): 1605-1608.e13. doi:10.1016/j.jid.2019.01.015  
5.   Hitomi Yuki, Ueno Kazuko, Kawai Yosuke, et al. POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33. Scientific reports. 2019; 9 (1): 102. doi:10.1038/s41598-018-36490-1  
6.   Nishiyama Takeshi, Nakatochi Masahiro, Goto Atsushi, et al. Genome-wide association meta-analysis and Mendelian randomization analysis confirm ALDH2 influencing on sleep duration in the Japanese population. Sleep. 2019; : . doi:10.1093/sleep/zsz046  
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.   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  
9.   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  
10.   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  
11.   Hirata Satoshi, Kojima Kaname, Misawa Kazuharu, et al. Population-scale whole genome sequencing identifies 271 highly polymorphic short tandem repeats from Japanese population. Heliyon. 2018; 4 (5): e00625. doi:10.1016/j.heliyon.2018.e00625  
12.   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  
13.   Shido K., Kojima K., Yamasaki K., et al. 299 A genome-wide association study identifies a novel susceptibility locus for total IgE in a Japanese population from Tohoku Medical Megabank cohort study. Journal of Investigative Dermatology. 2018; 138 (5): S51. doi:10.1016/j.jid.2018.03.305  
14.   Nishida Nao, Aiba Yoshihiro, Hitomi Yuki, et al. NELFCD and CTSZ loci are associated with jaundice-stage progression in primary biliary cholangitis in the Japanese population. Scientific reports. 2018; 8 (1): 8071. doi:10.1038/s41598-018-26369-6  
15.   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  
16.   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  
17.   Kawashima Minae, Hitomi Yuki, Aiba Yoshihiro, et al. Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population. Human Molecular Genetics. 2017; 26 (3): ddw406. doi:10.1093/hmg/ddw406  
18.   Ueta Mayumi, Sawai Hiromi, Shingaki Ryosei, et al. Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications. Journal of Human Genetics. 2017; 62 (4): 485-489. doi:10.1038/jhg.2016.160  
19.   Shido K., Kojima K., Hozawa A., et al. 503 Genome-wide association study identifies novel susceptibility loci for tanning ability in Japanese population. Journal of Investigative Dermatology. 2017; 137 (5): S86. doi:10.1016/j.jid.2017.02.523  
20.   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  
21.   Hitomi Yuki, Kojima Kaname, Kawashima Minae, et al. Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis. Scientific Reports. 2017; 7 (1): 2904. doi:10.1038/s41598-017-03067-3  
22.   Nariai Naoki, Kojima Kaname, Mimori Takahiro, et al. A Bayesian approach for estimating allele-specific expression from RNA-Seq data with diploid genomes. BMC Genomics. 2016; 17 (S1): 2. doi:10.1186/s12864-015-2295-5  
23.   Hasegawa Takanori, Kojima Kaname, Kawai Yosuke, et al. AP-SKAT: highly-efficient genome-wide rare variant association test. BMC genomics. 2016; 17 (1): 745. doi:10.1186/s12864-016-3094-3  
24.   Kojima Kaname, Kawai Yosuke, Nariai Naoki, et al. Short tandem repeat number estimation from paired-end reads for multiple individuals by considering coalescent tree. BMC genomics. 2016; 17 Suppl 5 : 494. doi:10.1186/s12864-016-2821-0  
25.   Kojima Kaname, Kawai Yosuke, Misawa Kazuharu, et al. STR-realigner: a realignment method for short tandem repeat regions. BMC genomics. 2016; 17 (1): 991. doi:10.1186/s12864-016-3294-x  
26.   Sun Yonghu, Irwanto Astrid, Toyo-oka Licht, et al. Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn’s disease and leprosy. Scientific Reports. 2016; 6 (1): 31429. doi:10.1038/srep31429  
27.   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  
28.   Mimori Takahiro, Nariai Naoki, Kojima Kaname, et al. Estimating copy numbers of alleles from population-scale high-throughput sequencing data. BMC Bioinformatics. 2015; 16 ((Suppl 1):S4): . doi:10.1186/1471-2105-16-S1-S4  
29.   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  
30.   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  
31.   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  
32.   河合 洋介, 三森 隆広, 小島 要, et al. ジャポニカアレイの設計と全ゲノムインピュテーションによる活用. Medical Science Digest. 2015; 41 (5): 34-37. http://hokuryukan-ns.co.jp/magazines/archives/2015/04/medical_science_135.html  
33.   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  
34.   Fujiwara Tohru, Fukuhara Noriko, Funayama Ryo, et al. Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia. Annals of hematology. 2014; 93 (9): 1515-22. doi:10.1007/s00277-014-2090-4  
35.   Sato Yukuto, Kojima Kaname, Nariai Naoki, et al. SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing. BMC genomics. 2014; 15 (1): 664. doi:10.1186/1471-2164-15-664  
36.   Nariai Naoki, Kojima Kaname, Mimori Takahiro, et al. TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads. BMC Genomics. 2014; 15 ((Suppl 10):S5): . doi:10.1186/1471-2164-15-S10-S5  
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.   Kojima Kaname, Nariai Naoki, Mimori Takahiro, et al. HapMonster: A Statistically Unified Approach for Variant Calling and Haplotyping Based on Phase-Informative Reads. Lecture Notes in Computer Science. 2014; 8542 : 107-118. doi:10.1007/978-3-319-07953-0_9  
39.   Ohtsuki Tomohiko, Nariai Naoki, Kojima Kaname, et al. SVEM: a Structural Variant Estimation Method using Multi-Mapped Reads on Breakpoints. Lecture Notes in Computer Science. 2014; 8542 : 208-219. doi:10.1007/978-3-319-07953-0_17  
40.   Kojima Kaname, Nariai Naoki, Mimori Takahiro, et al. A statistical variant calling approach from pedigree information and local haplotyping with phase informative reads. Bioinformatics. 2013; Nov 15 (29(22)): 2835-43. doi:10.1093/bioinformatics/btt503  
41.   Nariai Naoki, Hirose Osamu, Kojima Kaname, Nagasaki Masao. TIGAR: transcript isoform abundance estimation method with gapped alignment of RNA-Seq data by variational Bayesian inference. Bioinformatics (Oxford, England). 2013; 29 (18): 2292-9. doi:10.1093/bioinformatics/btt381  
42.   Mimori Takahiro, Nariai Naoki, Kojima Kaname, et al. iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data. BMC Syst Biol. 2013; 7 (Suppl 6): S8. doi:10.1186/1752-0509-7-S6-S8  
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