April 21, 2020  |  

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare.

Authors: Yasuda, Jun and Kinoshita, Kengo and Katsuoka, Fumiki and Danjoh, Inaho and Sakurai-Yageta, Mika and Motoike, Ikuko N and Kuroki, Yoko and Saito, Sakae and Kojima, Kaname and Shirota, Matsuyuki and Saigusa, Daisuke and Otsuki, Akihito and Kawashima, Junko and Yamaguchi-Kabata, Yumi and Tadaka, Shu and Aoki, Yuichi and Mimori, Takahiro and Kumada, Kazuki and Inoue, Jin and Makino, Satoshi and Kuriki, Miho and Fuse, Nobuo and Koshiba, Seizo and Tanabe, Osamu and Nagasaki, Masao and Tamiya, Gen and Shimizu, Ritsuko and Takai-Igarashi, Takako and Ogishima, Soichi and Hozawa, Atsushi and Kuriyama, Shinichi and Sugawara, Junichi and Tsuboi, Akito and Kiyomoto, Hideyasu and Ishii, Tadashi and Tomita, Hiroaki and Minegishi, Naoko and Suzuki, Yoichi and Suzuki, Kichiya and Kawame, Hiroshi and Tanaka, Hiroshi and Taki, Yasuyuki and Yaegashi, Nobuo and Kure, Shigeo and Nagami, Fuji and Kosaki, Kenjiro and Sutoh, Yoichi and Hachiya, Tsuyoshi and Shimizu, Atsushi and Sasaki, Makoto and Yamamoto, Masayuki

Personalized healthcare (PHC) based on an individual's genetic make-up is one of the most advanced, yet feasible, forms of medical care. The Tohoku Medical Megabank (TMM) Project aims to combine population genomics, medical genetics and prospective cohort studies to develop a critical infrastructure for the establishment of PHC. To date, a TMM CommCohort (adult general population) and a TMM BirThree Cohort (birth+three-generation families) have conducted recruitments and baseline surveys. Genome analyses as part of the TMM Project will aid in the development of a high-fidelity whole-genome Japanese reference panel, in designing custom single-nucleotide polymorphism (SNP) arrays specific to Japanese, and in estimation of the biological significance of genetic variations through linked investigations of the cohorts. Whole-genome sequencing from >3,500 unrelated Japanese and establishment of a Japanese reference genome sequence from long-read data have been done. We next aim to obtain genotype data for all TMM cohort participants (>150,000) using our custom SNP arrays. These data will help identify disease-associated genomic signatures in the Japanese population, while genomic data from TMM BirThree Cohort participants will be used to improve the reference genome panel. Follow-up of the cohort participants will allow us to test the genetic markers and, consequently, contribute to the realization of PHC.

Journal: Journal of biochemistry
DOI: 10.1093/jb/mvy096
Year: 2019

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