Tohoku University Tohoku Medical Megabank Organization (Masao Nagasaki)
2020.11.20

1.   Nakamura Ryoichi, Misawa Kazuharu, Tohnai Genki, et al. A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. Communications Biology. 2020; 3 (1): 526. doi:10.1038/s42003-020-01251-2  
2.   Gervais Olivier, Ueno Kazuko, Kawai Yosuke, et al. Genomic Heritabilities and Correlations of 17 Traits Related to Obesity and Associated Conditions in the Japanese Population. G3; Genes|Genomes|Genetics. 2020; 10 (7): 2221-2228. doi:10.1534/g3.120.401242  
3.   Masamune Atsushi, Kotani Hiroshi, Sörgel Franziska Lena, et al. Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis. Gastroenterology. 2020; 158 (6): 1626-1641.e8. doi:10.1053/j.gastro.2020.01.005  
4.   Misawa Kazuharu, Hasegawa Takanori, Mishima Eikan, et al. Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels. Genetics. 2020; 214 (4): 1079-1090. doi:10.1534/genetics.119.303006  
5.   Yoshida Ken, Yokota Kazuha, Kutsuwada Yukinobu, et al. Genome‐Wide Association Study of Lean Nonalcoholic Fatty Liver Disease Suggests Human Leukocyte Antigen as a Novel Candidate Locus. Hepatology Communications. 2020; 4 (8): 1124-1135. doi:10.1002/hep4.1529  
6.   Sugino Shigekazu, Konno Daisuke, Kawai Yosuke, et al. Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study. Human Genomics. 2020; 14 (1): 31. doi:10.1186/s40246-020-00282-4  
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. 2020; 49 (1): 18-19m. doi:10.1093/ije/dyz169  
8.   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  
9.   Yaoita Nobuhiro, Satoh Kimio, Satoh Taijyu, et al. Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension. Journal of the American Heart Association. 2020; : . doi:10.1161/JAHA.120.015902  
10.   Jia Xiaoyuan, Yamamura Tomohiko, Gbadegesin Rasheed, et al. Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. Kidney International. 2020; : . doi:10.1016/j.kint.2020.05.029  
11.   Shirota Matsuyuki, Saigusa Daisuke, Yamashita Riu, et al. Longitudinal plasma amino acid profiling with maternal genomic background throughout human pregnancy. Medical Mass Spectrometry. 2020; 4 (1): 36-49. doi:10.24508/mms.2020.06.001  
12.   Kaneyasu Tomoko, Mori Seiichi, Yamauchi Hideko, et al. Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome. npj Breast Cancer. 2020; 6 (1): 25. doi:10.1038/s41523-020-0163-1  
13.   Kakuta Yoichi, Ichikawa Ryo, Fuyuno Yuta, et al. An Integrated Genomic and Transcriptomic Analysis Reveals Candidates of Susceptibility Genes for Crohn’s Disease in Japanese Populations. Scientific Reports. 2020; 10 (1): 10236. doi:10.1038/s41598-020-66951-5  
14.   Kim Yong Woo, Kim Yu Jeong, Cheong Hyun Sub, et al. Exploring the Novel Susceptibility Gene Variants for Primary Open-Angle Glaucoma in East Asian Cohorts: The GLAU-GENDISK Study. Scientific Reports. 2020; 10 (1): 221. doi:10.1038/s41598-019-57066-7  
15.   Sugawara Junichi, Ochi Daisuke, Yamashita Riu, et al. Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy. BMJ Open. 2019; 9 (2): e025939. doi:10.1136/bmjopen-2018-025939  
16.   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  
17.   Ishizawa Kota, Yamanaka Mie, Saiki Yuriko, et al. CD45 + CD326 + Cells are Predictive of Poor Prognosis in Non–Small Cell Lung Cancer Patients. Clinical Cancer Research. 2019; 25 (22): 6756-6763. doi:10.1158/1078-0432.CCR-19-0545  
18.   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  
19.   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  
20.   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  
21.   Wang Yen-Yen, Mimori Takahiro, Khor Seik-Soon, et al. HLA-VBSeq v2: improved HLA calling accuracy with full-length Japanese class-I panel. Human Genome Variation. 2019; 6 (1): 29. doi:10.1038/s41439-019-0061-y  
22.   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  
23.   Mizuguchi Takeshi, Suzuki Takeshi, Abe Chihiro, et al. A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing. Journal of Human Genetics. 2019; 64 (5): 359-368. doi:10.1038/s10038-019-0569-5  
24.   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  
25.   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. 2019; 17 (1): 34. doi:10.1186/s12969-019-0337-2  
26.   Nishiyama Takeshi, Nakatochi Masahiro, Goto Atsushi, et al. Genome-wide association meta-analysis and Mendelian randomization analysis confirm the influence of ALDH2 on sleep durationin the Japanese population. Sleep. 2019; 42 (6): . doi:10.1093/sleep/zsz046  
27.   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  
28.   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  
29.   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  
30.   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  
31.   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  
32.   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  
33.   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  
34.   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  
35.   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  
36.   Kakuta Yoichi, Kawai Yosuke, Okamoto Daisuke, et al. NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study. Journal of Gastroenterology. 2018; 53 (9): 1065-1078. doi:10.1007/s00535-018-1486-7  
37.   Naito Takeo, Yokoyama Naonobu, Kakuta Yoichi, et al. Clinical and genetic risk factors for decreased bone mineral density in Japanese patients with inflammatory bowel disease. Journal of Gastroenterology and Hepatology. 2018; 33 (11): 1873-1881. doi:10.1111/jgh.14149  
38.   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  
39.   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  
40.   Jia Xiaoyuan, Horinouchi Tomoko, Hitomi Yuki, et al. Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population. Journal of the American Society of Nephrology. 2018; 29 (8): 2189-2199. doi:10.1681/ASN.2017080859  
41.   Chiba Hirofumi, Kakuta Yoichi, Kinouchi Yoshitaka, et al. Allele-specific DNA methylation of disease susceptibility genes in Japanese patients with inflammatory bowel disease. PLOS ONE. 2018; 13 (3): e0194036. doi:10.1371/journal.pone.0194036  
42.   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  
43.   Latt Khun Zaw, Honda Kenjiro, Thiri Myo, et al. Identification of a two-SNP PLA2R1 Haplotype and HLA-DRB1 Alleles as Primary Risk Associations in Idiopathic Membranous Nephropathy. Scientific Reports. 2018; 8 (1): 15576. doi:10.1038/s41598-018-33612-7  
44.   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  
45.   長﨑 正朗. 日本人ゲノムシークエンスと多様性──世界のヒトゲノム情報基盤構築の現状と日本人ヒトゲノム情報基盤構築の意義. 医学のあゆみ. 2018; 266 ((6)): 357-363.  
46.   Takai-Igarashi Takako, Kinoshita Kengo, Nagasaki Masao, et al. Security controls in an integrated Biobank to protect privacy in data sharing: rationale and study design. BMC Medical Informatics and Decision Making. 2017; 17 (1): 100. doi:10.1186/s12911-017-0494-5  
47.   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  
48.   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  
49.   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  
50.   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  
51.   Liu Ta-Chiang, Naito Takeo, Liu Zhenqiu, et al. LRRK2 but not ATG16L1 is associated with Paneth cell defect in Japanese Crohn’s disease patients. JCI Insight. 2017; 2 (6): e91917. doi:10.1172/jci.insight.91917  
52.   Kumagai Chihiro, Sato Yukuto, Yamashita Riu, et al. Semi-automated quantitative analysis of the human skin microbiome diversity. Journal of Dermatological Science. 2017; 86 (2): e75. doi:10.1016/j.jdermsci.2017.02.219  
53.   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  
54.   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  
55.   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  
56.   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  
57.   Ueno Kazuko, Iwagawa Toshiro, Ochiai Genki, et al. Analysis of Müller glia specific genes and their histone modification using Hes1-promoter driven EGFP expressing mouse. Scientific Reports. 2017; 7 (1): 3578. doi:10.1038/s41598-017-03874-8  
58.   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  
59.   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  
60.   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  
61.   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 (S5): 494. doi:10.1186/s12864-016-2821-0  
62.   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  
63.   Koso Hideto, Tsuhako Asano, Lai Chen-Yi, et al. Conditional rod photoreceptor ablation reveals Sall1 as a microglial marker and regulator of microglial morphology in the retina. Glia. 2016; 64 (11): 2005-24. doi:10.1002/glia.23038  
64.   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  
65.   Masamune Atsushi, Nakano Eriko, Niihori Tetsuya, et al. Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. Pancreatology. 2016; 16 (5): 814-818. doi:10.1016/j.pan.2016.06.662  
66.   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  
67.   Yamagishi Junya, Sato Yukuto, Shinozaki Natsuko, et al. Comparison of Boiling and Robotics Automation Method in DNA Extraction for Metagenomic Sequencing of Human Oral Microbes. PLOS ONE. 2016; 11 (4): e0154389. doi:10.1371/journal.pone.0154389  
68.   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  
69.   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  
70.   Ueno Kazuko, Iwagawa Toshiro, Kuribayashi Hiroshi, et al. Transition of differential histone H3 methylation in photoreceptors and other retinal cells during retinal differentiation. Scientific Reports. 2016; 6 (1): 29264. doi:10.1038/srep29264  
71.   Mimori Takahiro, Nariai Naoki, Kojima Kaname, et al. Estimating copy numbers of alleles from population-scale high-throughput sequencing data. BMC Bioinformatics. 2015; 16 (S1): S4. doi:10.1186/1471-2105-16-S1-S4  
72.   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 (S2): S7. doi:10.1186/1471-2164-16-S2-S7  
73.   Mori Takahiro, Sumii Makiko, Fujishima Fumiyoshi, et al. Somatic alteration and depleted nuclear expression of BAP1 in human esophageal squamous cell carcinoma. Cancer Science. 2015; 106 (9): 1118-1129. doi:10.1111/cas.12722  
74.   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 (1): 15050. doi:10.1038/hgv.2015.50  
75.   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  
76.   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  
77.   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 (1): 8018. doi:10.1038/ncomms9018  
78.   Sato Yukuto, Yamagishi Junya, Yamashita Riu, et al. Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals. PLOS ONE. 2015; 10 (6): e0131607. doi:10.1371/journal.pone.0131607  
79.   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  
80.   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): 1515-1522. doi:10.1007/s00277-014-2090-4  
81.   Hasegawa Takanori, Nagasaki Masao, Yamaguchi Rui, et al. An efficient method of exploring simulation models by assimilating literature and biological observational data. Biosystems. 2014; 121 : 54-66. doi:10.1016/j.biosystems.2014.06.001  
82.   Li Chen, Nagasaki Masao, Ikeda Emi, et al. CSML2SBML: A novel tool for converting quantitative biological pathway models from CSML into SBML. Biosystems. 2014; 121 : 22-28. doi:10.1016/j.biosystems.2014.05.004  
83.   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  
84.   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 (S10): S5. doi:10.1186/1471-2164-15-S10-S5  
85.   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 (1): 673. doi:10.1186/1471-2164-15-673  
86.   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  
87.   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  
88.   Hasegawa Takanori, Yamaguchi Rui, Nagasaki Masao, et al. Inference of Gene Regulatory Networks Incorporating Multi-Source Biological Knowledge via a State Space Model with L1 Regularization. PLoS ONE. 2014; 9 (8): e105942. doi:10.1371/journal.pone.0105942  
89.   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  
90.   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  
91.   Nagasaki Masao, Fujita André, Sekiya Yayoi, et al. XiP: a computational environment to create, extend and share workflows. Bioinformatics (Oxford, England). 2013; 29 (1): 137-9. doi:10.1093/bioinformatics/bts630  
92.   Mimori Takahiro, Nariai Naoki, Kojima Kaname, et al. iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data. BMC Systems Biology. 2013; 7 (Suppl 6): S8. doi:10.1186/1752-0509-7-S6-S8  
93.   Kon Ayana, Shih Lee-Yung, Minamino Masashi, et al. Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nature Genetics. 2013; 45 (10): 1232-1237. doi:10.1038/ng.2731  
94.   Razak Siti Razila Abdul, Ueno Kazuko, Takayama Naoya, et al. Profiling of MicroRNA in Human and Mouse ES and iPS Cells Reveals Overlapping but Distinct MicroRNA Expression Patterns. PLoS ONE. 2013; 8 (9): e73532. doi:10.1371/journal.pone.0073532  
95.   Hiramoto Takafumi, Ebihara Yasuhiro, Mizoguchi Yoko, et al. Wnt3a stimulates maturation of impaired neutrophils developed from severe congenital neutropenia patient-derived pluripotent stem cells. Proceedings of the National Academy of Sciences of the United States of America. 2013; 110 (8): 3023-8. doi:10.1073/pnas.1217039110  
96.   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.  
97.   Yasuda Tomohiro, Suzuki Shin, Nagasaki Masao, Miyano Satoru. ChopSticks: High-resolution analysis of homozygous deletions by exploiting concordant read pairs. BMC Bioinformatics. 2012; 13 (1): 279. doi:10.1186/1471-2105-13-279  
98.   Koso Hideto, Takeda Haruna, Yew Christopher Chin Kuan, et al. Transposon mutagenesis identifies genes that transform neural stem cells into glioma-initiating cells. Proceedings of the National Academy of Sciences of the United States of America. 2012; 109 (44): E2998-3007. doi:10.1073/pnas.1215899109