TY - JOUR
T1 - Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare
AU - Yasuda, Jun
AU - Kinoshita, Kengo
AU - Katsuoka, Fumiki
AU - Danjoh, Inaho
AU - Sakurai-Yageta, Mika
AU - Motoike, Ikuko N.
AU - Kuroki, Yoko
AU - Saito, Sakae
AU - Kojima, Kaname
AU - Shirota, Matsuyuki
AU - Saigusa, Daisuke
AU - Otsuki, Akihito
AU - Kawashima, Junko
AU - Yamaguchi-Kabata, Yumi
AU - Tadaka, Shu
AU - Aoki, Yuichi
AU - Mimori, Takahiro
AU - Kumada, Kazuki
AU - Inoue, Jin
AU - Makino, Satoshi
AU - Kuriki, Miho
AU - Fuse, Nobuo
AU - Koshiba, Seizo
AU - Tanabe, Osamu
AU - Nagasaki, Masao
AU - Tamiya, Gen
AU - Shimizu, Ritsuko
AU - Takai-Igarashi, Takako
AU - Ogishima, Soichi
AU - Hozawa, Atsushi
AU - Kuriyama, Shinichi
AU - Sugawara, Junichi
AU - Tsuboi, Akito
AU - Kiyomoto, Hideyasu
AU - Ishii, Tadashi
AU - Tomita, Hiroaki
AU - Minegishi, Naoko
AU - Suzuki, Yoichi
AU - Suzuki, Kichiya
AU - Kawame, Hiroshi
AU - Tanaka, Hiroshi
AU - Taki, Yasuyuki
AU - Yaegashi, Nobuo
AU - Kure, Shigeo
AU - Nagami, Fuji
AU - Kosaki, Kenjiro
AU - Sutoh, Yoichi
AU - Hachiya, Tsuyoshi
AU - Shimizu, Atsushi
AU - Sasaki, Makoto
AU - Yamamoto, Masayuki
N1 - Funding Information:
grant numbers JP18km0105001 and JP18km0105002); AMED Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN) project (grant numbers JP18km0405203 and JP18km0405203); and by the Center of Innovation Program from the Japan Science and Technology Agency (JST). All computational resources were provided by the ToMMo supercomputer system (http://sc.megabank.tohoku.ac.jp/ en), which is supported by the Facilitation of R&D Platform for AMED Genome Medicine Support conducted by AMED (grant number JP18km0405001).
Funding Information:
This work was supported in part by the Tohoku Medical Megabank Project through the Ministry of Education, Culture, Sports, Science and Technology, Japan; by the Reconstruction Agency, Japan; by the Japan Agency for Medical Research and Development (AMED; grant numbers JP18km0105001 and JP18km0105002); AMED Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN) project (grant numbers JP18km0405203 and JP18km0405203); and by the Center of Innovation Program from the Japan Science and Technology Agency (JST). All computational resources were provided by the ToMMo supercomputer system (http://sc.megabank.tohoku.ac.jp/ en), which is supported by the Facilitation of RandD Platform for AMED Genome Medicine Support conducted by AMED (grant number JP18km0405001)
Funding Information:
This work was supported in part by the Tohoku Medical Megabank Project through the Ministry of Education, Culture, Sports, Science and Technology, Japan; by the Reconstruction Agency, Japan; by the Japan Agency for Medical Research and Development (AMED;
Publisher Copyright:
© The Author(s) 2018. Published by Oxford University Press on behalf of the Japanese Biochemical Society. All rights reserved.
PY - 2019/2/1
Y1 - 2019/2/1
N2 - 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.
AB - 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.
KW - Genome reference panel
KW - Japonica array
KW - Personalized healthcare
KW - Tohoku medical megabank project
KW - Whole genome sequencing
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U2 - 10.1093/jb/mvy096
DO - 10.1093/jb/mvy096
M3 - Article
C2 - 30452759
AN - SCOPUS:85060173847
SN - 0021-924X
VL - 165
SP - 139
EP - 158
JO - Journal of Biochemistry
JF - Journal of Biochemistry
IS - 2
ER -