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J Biochem. 2019 Feb 1;165(2):139-158. doi: 10.1093/jb/mvy096.

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

Author information

1
Tohoku Medical Megabank Organization, Tohoku University, 2-1, Seiryo-Machi, Aoba-ku, Sendai, Japan.
2
Department of Applied Information Sciences, Graduate School of Information Sciences, Tohoku University, 6-6-05 Aramaki Aza Aoba, Aoba-ku, Sendai, Japan.
3
Institute of Development, Aging, and Cancer, Tohoku University, 4-1, Seiryo-machi, Aoba-ku, Sendai, Japan.
4
United Centers for Advanced Research and Translational Medicine.
5
Department of Molecular Hematology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-Machi, Aoba-ku, Sendai, Japan.
6
International Research Institute of Disaster Science, Tohoku University, 468-1, Aramaki Aza Aoba, Aoba-ku, Sendai, Japan.
7
Department of Education and Support for Community Medicine, Tohoku University Graduate School of Medicine, 2-1, Seiryo-Machi, Aoba-ku, Sendai, Japan.
8
Medical Data Science Promotion Office, Tokyo Medical and Dental University, 2-3-10 Kandasurugadai, Chiyoda-ku, Tokyo, Japan.
9
Department of Obstetrics and Gynecology.
10
Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1, Seiryo-Machi, Aoba-ku, Sendai, Japan.
11
Center for Medical Genetics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, Japan.
12
Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center.
13
Division of Ultrahigh Field MRI, Institute for Biomedical Sciences Iwate Medical University, 2-1-1 Nishitokuta, Yahaba, Shiwa, Iwate, Japan.
14
Department of Medical Biochemistry, Tohoku University Graduate School of Medicine, 2-1, Seiryo-Machi, Aoba-ku, Sendai, Japan.

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.

PMID:
30452759
DOI:
10.1093/jb/mvy096
[Indexed for MEDLINE]

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