3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome
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DOI：
10.1038/s41439-019-0059-5
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发表时间：
2019-06-18
影响因子：
1.5
通讯作者：
Kinoshita, Kengo
中科院分区：
文献类型：
--
作者：
Tadaka, Shu;Katsuoka, Fumiki;Kinoshita, Kengo
实现个性化医疗的第一步是对人群中的遗传变异进行分类。由于个体水平基因组信息的传播受到严格控制，因此构建具有易于使用的界面的群体水平等位基因频率面板将是有用的。在东北医疗Megabank项目中，我们对来自日本人群的近4000名个体进行了测序，并在去除相关样本后构建了3552名个体的等位基因频率面板。该面板被称为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提供日本人群中X染色体和线粒体上存在的变异频率的大规模小组。所有数据都可以在我们的原始数据库https://jmorp.megabank.tohoku.ac.jp上找到。
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 populationlevel 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.