期刊
JOURNAL OF BIOCHEMISTRY
卷 165, 期 2, 页码 139-158出版社
OXFORD UNIV PRESS
DOI: 10.1093/jb/mvy096
关键词
genome reference panel; Japonica array; personalized healthcare; Tohoku Medical Megabank Project; whole genome sequencing
资金
- Tohoku Medical Megabank Project through the Ministry of Education, Culture, Sports, Science and Technology, Japan
- Reconstruction Agency, Japan
- Japan Agency for Medical Research and Development (AMED) [JP18km0105001, JP18km0105002]
- AMED Advanced Genome Research and Bioinformatics Study to Facilitate Medical Innovation (GRIFIN) project [JP18km0405203]
- Center of Innovation Program from the Japan Science and Technology Agency (JST)
- Facilitation of R&D Platform for AMED Genome Medicine Support [JP18km0405001]
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.
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