Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare. (19th November 2018)

• Record Type: Journal Article
• Authors: Yasuda, Jun; Kinoshita, Kengo; Katsuoka, Fumiki; Danjoh, Inaho; Sakurai-Yageta, Mika; Motoike, Ikuko N; Kuroki, Yoko; Saito, Sakae; Kojima, Kaname; Shirota, Matsuyuki; Saigusa, Daisuke; Otsuki, Akihito; Kawashima, Junko; Yamaguchi-Kabata, Yumi; Tadaka, Shu; Aoki, Yuichi; Mimori, Takahiro; Kumada, Kazuki; Inoue, Jin; Makino, Satoshi; Kuriki, Miho; Fuse, Nobuo; Koshiba, Seizo; Tanabe, Osamu; Nagasaki, Masao; Tamiya, Gen; Shimizu, Ritsuko; Takai-Igarashi, Takako; Ogishima, Soichi; Hozawa, Atsushi; Kuriyama, Shinichi; Sugawara, Junichi; Tsuboi, Akito; Kiyomoto, Hideyasu; Ishii, Tadashi; Tomita, Hiroaki; Minegishi, Naoko; Suzuki, Yoichi; Suzuki, Kichiya; Kawame, Hiroshi; Tanaka, Hiroshi; Taki, Yasuyuki; Yaegashi, Nobuo; Kure, Shigeo; Nagami, Fuji; Kosaki, Kenjiro; Sutoh, Yoichi; Hachiya, Tsuyoshi; Shimizu, Atsushi; Sasaki, Makoto; Yamamoto, Masayuki;
• Is Part Of: Journal of biochemistry. Volume 165:Number 2(2019)
• Page Start: 139
• Page End: 158
• Publication Date: 2018-11-19
• Subjects: genome reference panel -- Japonica array -- personalized healthcare -- Tohoku Medical Megabank Project -- whole genome sequencing; Biochemistry -- Periodicals; Biochemistry -- Periodicals; Electronic journals; 572.05
• DOI: 10.1093/jb/mvy096
• Languages: English
• ISSNs: 0021-924X

Abstract

Abstract: 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.