Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare
Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare
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DOI：
10.1093/jb/mvy096
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发表时间：
2019-02-01
影响因子：
2.7
通讯作者：
Yamamoto，Masayuki
中科院分区：
文献类型：
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作者：
Yasuda，Jun;Kinoshita，Kengo;Yamamoto，Masayuki
基于个人基因组成的个性化医疗保健（PHC）是最先进但可行的医疗保健形式之一。东北医疗大数据库（TMM）项目旨在将人口基因组学、医学遗传学和前瞻性队列研究相结合，为建立PHC开发关键基础设施。到目前为止，TMM CommCohort（成年普通人群）和TMM BirThree Cohort（出生+三代家庭）已经进行了招募和基线调查。作为TMM项目的一部分，基因组分析将有助于开发高保真全基因组日本参考面板，设计日本人特有的定制单核苷酸多态性（SNP）阵列，并通过对队列的相关调查估计遗传变异的生物学意义。已经完成了来自3,500多名无关日本人的全基因组测序，并根据长读数据建立了日本参考基因组序列。我们接下来的目标是使用我们的定制SNP阵列获得所有TMM队列参与者（> 150，000）的基因型数据。这些数据将有助于识别日本人群中与疾病相关的基因组特征，而来自TMM BirThree队列参与者的基因组数据将用于改进参考基因组面板。对队列参与者的随访将使我们能够测试遗传标记，从而有助于实现PHC。
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.