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

Shu TadakaFumiki KatsuokaMasao UekiKaname KojimaSatoshi MakinoSakae SaitoAkihito OtsukiChinatsu GochoMika Sakurai-YagetaInaho DanjohIkuko N MotoikeYumi Yamaguchi-KabataMatsuyuki ShirotaSeizo KoshibaMasao NagasakiNaoko MinegishiAtsushi HozawaShinichi KuriyamaAtsushi ShimizuJun YasudaNobuo Fusenull nullGen TamiyaMasayuki YamamotoKengo Kinoshita
Published in: Human genome variation (2019)
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.
Keyphrases
  • healthcare
  • copy number
  • wastewater treatment
  • quality improvement
  • gene expression
  • electronic health record
  • reactive oxygen species
  • social media
  • drug induced