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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
Human genome variation, 06/2019, Letnik: 6, Številka: 1Journal Article
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.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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Vir: Osebne bibliografije
in: SICRIS
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