| 1. | Hozawa Atsushi, Nakaya Kumi, Nakaya Naoki, et al. Progress Report of the Tohoku Medical Megabank Community-based Cohort Study: Study Profile of the Repeated Center-based Survey During Second Period in Miyagi Prefecture. Journal of Epidemiology. 2024; 34 (9): JE20230241. doi:10.2188/jea.JE20230241 | ||
| 2. | Ohneda Kinuko, Hamanaka Yohei, Kawame Hiroshi, et al. Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants. Breast Cancer. 2023; 30 (1): 110-120. doi:10.1007/s12282-022-01404-7 | ||
| 3. | Sato Yotaroh, Tsuyusaki Miho, Takahashi-Iwanaga Hiromi, et al. Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice. Frontiers in Molecular Biosciences. 2022; 9 : . doi:10.3389/fmolb.2022.1040237 | ||
| 4. | Shiga Naomi, Yamaguchi-Kabata Yumi, Igeta Saori, et al. Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. Human Genome Variation. 2022; 9 (1): 34. doi:10.1038/s41439-022-00213-w | ||
| 5. | Ohneda Kinuko, Hiratsuka Masahiro, Kawame Hiroshi, et al. A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants. JMA Journal. 2022; 5 (2): . doi:10.31662/jmaj.2021-0156 | ||
| 6. | Kawame Hiroshi, Fukushima Akimune, Fuse Nobuo, et al. The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project. Journal of Human Genetics. 2022; 67 (1): 9-17. doi:10.1038/s10038-021-00952-8 | ||
| 7. | Nagaoka Shinichi, Yamaguchi-Kabata Yumi, Shiga Naomi, et al. Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals. Human Genome Variation. 2021; 8 (1): 2. doi:10.1038/s41439-020-00133-7 | ||
| 8. | Tokunaga Hideki, Iida Keita, Hozawa Atsushi, et al. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2). PLOS ONE. 2021; 16 (1): e0236907. doi:10.1371/journal.pone.0236907 | ||
| 9. | 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 | ||
| 10. | 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 | ||
| 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. | 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 | ||
| 13. | 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 | ||
| 14. | 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 | ||
| 15. | Shimada Makoto K., Sanbonmatsu Ryoko, Yamaguchi-Kabata Yumi, et al. Selection pressure on human STR loci and its relevance in repeat expansion disease. Molecular Genetics and Genomics. 2016; 291 (5): 1851-1869. doi:10.1007/s00438-016-1219-7 | ||
| 16. | 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 | ||
| 17. | 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 | ||
| 18. | 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 | ||
| 19. | 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 | ||
| 20. | 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 | ||
| 21. | 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 | ||
| 22. | 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 | ||
| 23. | 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 | ||
| 24. | 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 | ||
| 25. | Takezawa Yasuko, Kato Kazuto, Oota Hiroki, et al. Human genetic research, race, ethnicity and the labeling of populations: Recommendations based on an interdisciplinary workshop in Japan. BMC Medical Ethics. 2014; 15 (1): 33. doi:10.1186/1472-6939-15-33 | ||
| 26. | 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 | ||
| 27. | 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 | ||
| 28. | 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 | ||
| 29. | 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; 29 (22): 2835-2843. doi:10.1093/bioinformatics/btt503 | ||
| 30. | 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 (S6): S8. doi:10.1186/1752-0509-7-S6-S8 |