Tohoku University Tohoku Medical Megabank Organization (Yumi Yamaguchi-Kabata)
2019.09.13

1.   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  
2.   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  
3.   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  
4.   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  
5.   Yamaguchi-Kabata Yumi, Morihara Takashi, Ohara Tomoyuki, et al. Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disease. Human Genetics. 2018; 137 (6-7): 521-533. doi:10.1007/s00439-018-1906-z  
6.   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  
7.   Komuro Hazuki, Sato Naoko, Sasaki Ayaka, et al. Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome. PLOS ONE. 2016; 11 (1): e0147817. doi:10.1371/journal.pone.0147817  
8.   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  
9.   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  
10.   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  
11.   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  
12.   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  
13.   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  
14.   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  
15.   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  
16.   Takezawa Y, Kato K, Oota H, et al. Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan. BMC Med Ethics. 2014; 15 : 33. doi:10.1186/1472-6939-15-33  
17.   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  
18.   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  
19.   Morihara T, Hayashi N, Yokokoji M, et al. Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid-beta accumulation modifier. Proc Natl Acad Sci U S A. 2014; 111 (7): 2638-2643. doi:10.1073/pnas.1307345111  
20.   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  
21.   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