Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.
作者： Jun Yasuda , Kengo Kinoshita , Fumiki Katsuoka , Inaho Danjoh , Mika Sakurai-Yageta
DOI: 10.1093/JB/MVY096
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摘要: Personalized healthcare (PHC) based on an individual's genetic make-up is one of the most advanced, yet feasible, forms medical care. The Tohoku Medical Megabank (TMM) Project aims to combine population genomics, genetics and prospective cohort studies develop a critical infrastructure for establishment PHC. To date, TMM CommCohort (adult general population) BirThree Cohort (birth+three-generation families) have conducted recruitments baseline surveys. Genome analyses as part will aid in development high-fidelity whole-genome Japanese reference panel, designing custom single-nucleotide polymorphism (SNP) arrays specific Japanese, estimation biological significance variations through linked investigations cohorts. Whole-genome sequencing from >3,500 unrelated genome sequence long-read data been done. We next aim obtain genotype all participants (>150,000) using our SNP arrays. These help identify disease-associated genomic signatures population, while be used improve panel. Follow-up allow us test markers and, consequently, contribute realization
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Unnur Styrkarsdottir, Gudmar Thorleifsson, Patrick Sulem, Daniel F Gudbjartsson, Asgeir Sigurdsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Asmundur Oddsson, Agnar Helgason, Olafur T Magnusson, G Bragi Walters, Michael L Frigge, Hafdis T Helgadottir, Hrefna Johannsdottir, Kristin Bergsteinsdottir, Margret H Ogmundsdottir, Jacqueline R Center, Tuan V Nguyen, John A Eisman, Claus Christiansen, Erikur Steingrimsson, Jon G Jonasson, Laufey Tryggvadottir, Gudmundur I Eyjolfsson, Asgeir Theodors, Thorvaldur Jonsson, Thorvaldur Ingvarsson, Isleifur Olafsson, Thorunn Rafnar, Augustine Kong, Gunnar Sigurdsson, Gisli Masson, Unnur Thorsteinsdottir, Kari Stefansson, None, Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits Nature. ,vol. 497, pp. 517- 520 ,(2013) , 10.1038/NATURE12124
Rui Chen, Michael Snyder, Promise of personalized omics to precision medicine. Wiley Interdisciplinary Reviews: Systems Biology and Medicine. ,vol. 5, pp. 73- 82 ,(2013) , 10.1002/WSBM.1198
Jurg Ott, Yoichiro Kamatani, Mark Lathrop, Family-based designs for genome-wide association studies Nature Reviews Genetics. ,vol. 12, pp. 465- 474 ,(2011) , 10.1038/NRG2989
Nobuo Nishi, Eiichi Yoshimura, Kazuko Ishikawa-Takata, Nobuyo Tsuboyama-Kasaoka, Tetsuya Kubota, Motohiko Miyachi, Shinkan Tokudome, Yukari Yokoyama, Kiyomi Sakata, Seiichiro Kobayashi, Akira Ogawa, Relationship of Living Conditions With Dietary Patterns Among Survivors of the Great East Japan Earthquake Journal of Epidemiology. ,vol. 23, pp. 376- 381 ,(2013) , 10.2188/JEA.JE20130025
James L. Weber, The Iceland map. Nature Genetics. ,vol. 31, pp. 225- 226 ,(2002) , 10.1038/NG920
Francis S. Collins, Harold Varmus, A New Initiative on Precision Medicine New England Journal of Medicine. ,vol. 372, pp. 793- 795 ,(2015) , 10.1056/NEJMP1500523
Shinichi Omama, Yuki Yoshida, Kuniaki Ogasawara, Akira Ogawa, Yasuhiro Ishibashi, Motoyuki Nakamura, Kozo Tanno, Masaki Ohsawa, Toshiyuki Onoda, Kazuyoshi Itai, Kiyomi Sakata, Extent of Flood Damage Increased Cerebrovascular Disease Incidences in Iwate Prefecture after the Great East Japan Earthquake and Tsunami of 2011 Cerebrovascular Diseases. ,vol. 37, pp. 451- 459 ,(2014) , 10.1159/000363278
Ikuko N Motoike, Mitsuyo Matsumoto, Inaho Danjoh, Fumiki Katsuoka, Kaname Kojima, Naoki Nariai, Yukuto Sato, Yumi Yamaguchi-Kabata, Shin Ito, Hisaaki Kudo, Ichiko Nishijima, Satoshi Nishikawa, Xiaoqing Pan, Rumiko Saito, Sakae Saito, Tomo Saito, Matsuyuki Shirota, Kaoru Tsuda, Junji Yokozawa, Kazuhiko Igarashi, Naoko Minegishi, Osamu Tanabe, Nobuo Fuse, Masao Nagasaki, Kengo Kinoshita, Jun Yasuda, Masayuki Yamamoto, None, 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. ,vol. 15, pp. 673- 673 ,(2014) , 10.1186/1471-2164-15-673
C. J. Bell, D. L. Dinwiddie, N. A. Miller, S. L. Hateley, E. E. Ganusova, J. Mudge, R. J. Langley, L. Zhang, C. C. Lee, F. D. Schilkey, V. Sheth, J. E. Woodward, H. E. Peckham, G. P. Schroth, R. W. Kim, S. F. Kingsmore, Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing Science Translational Medicine. ,vol. 3, ,(2011) , 10.1126/SCITRANSLMED.3001756
David B. Goldstein, Andrew Allen, Jonathan Keebler, Elliott H. Margulies, Steven Petrou, Slavé Petrovski, Shamil Sunyaev, Sequencing studies in human genetics: design and interpretation Nature Reviews Genetics. ,vol. 14, pp. 460- 470 ,(2013) , 10.1038/NRG3455