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3.5KJPNv2:一个包含X染色体的3552名日本个体的等位基因频率面板。

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.

作者信息

Tadaka Shu, Katsuoka Fumiki, Ueki Masao, Kojima Kaname, Makino Satoshi, Saito Sakae, Otsuki Akihito, Gocho Chinatsu, Sakurai-Yageta Mika, Danjoh Inaho, Motoike Ikuko N, Yamaguchi-Kabata Yumi, Shirota Matsuyuki, Koshiba Seizo, Nagasaki Masao, Minegishi Naoko, Hozawa Atsushi, Kuriyama Shinichi, Shimizu Atsushi, Yasuda Jun, Fuse Nobuo, Tamiya Gen, Yamamoto Masayuki, Kinoshita Kengo

机构信息

1Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.

2Graduate School of Medicine, Tohoku University, Sendai, Japan.

出版信息

Hum Genome Var. 2019 Jun 18;6:28. doi: 10.1038/s41439-019-0059-5. eCollection 2019.

Abstract

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.

摘要

实现个性化医疗的第一步是对人群中的基因变异进行编目。由于个人层面的基因组信息传播受到严格控制,构建具有易于使用界面的人群层面等位基因频率面板将很有用。在东北医疗大数据库项目中,我们对来自日本人群的近4000人进行了测序,并在去除相关样本后构建了一个包含3552人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算法的标准流程构建的,以减少技术偏差并便于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X染色体和线粒体上变异频率的大规模面板。所有数据都可在我们的原始数据库https://jmorp.megabank.tohoku.ac.jp上获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/41d8/6581902/4b09f972eb7b/41439_2019_59_Fig1_HTML.jpg

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