The first step towards realizing personalized healthcare is to catalog the genetic variations in a population. Since the dissemination of individual-level genomic information is strictly controlled, it will be useful to construct population-level allele frequency panels with easy-to-use interfaces. In the Tohoku Medical Megabank Project, we sequenced nearly 4000 individuals from a Japanese population and constructed an allele frequency panel of 3552 individuals after removing related samples. The panel is called the 3.5KJPNv2. It was constructed by using a standard pipeline including the 1KGP and gnomAD algorithms to reduce technical biases and to allow comparisons to other populations. Our database is the first large-scale panel providing the frequencies of variants present on the X chromosome and on the mitochondria in the Japanese population. All the data are available on our original database at https://jmorp.megabank.tohoku.ac.jp.

中文翻译：

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3.5KJPNv2：包括X染色体在内的3552个日本人的等位基因频率面板。

实现个性化医疗保健的第一步是对人群中的遗传变异进行分类。由于严格控制个人水平基因组信息的传播，因此使用易于使用的界面构建人群水平的等位基因频率面板将很有用。在东北医疗大银行项目中，我们从日本人口中测序了近4000个个体，并在去除相关样本后构建了3552个个体的等位基因频率面板。该面板称为3.5KJPNv2。它是通过使用包括1KGP和gnomAD算法的标准管道构建的，以减少技术偏差并允许与其他人群进行比较。我们的数据库是第一个大规模的专家组，提供了日本人口X染色体和线粒体上的变异频率。