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    The locations and allele frequencies of SNVs of 3,554 Japanese individuals by whole genome sequences is available

    Research: 2017/09/28

    Tohoku University Tohoku Medical Megabank Organization (ToMMo) and Iwate Tohoku Medical Megabank Organization (IMM) have finished the whole genome sequencing of a total of 3,554 Japanese people (3,344 participants in the cohort studies of Tohoku Medical Megabank Project, 181 participants in National Hospital Organization Nagasaki Medical Center, 29 participants in the Nagahama Prospective Cohort for Comprehensive Human Bioscience (the Nagahama Study)).

    We have now constructed the highly accurate Japanese population reference panel. We open a data set of the SNVs in the panel to the researchers.

    The data contains the SNVs which were not included in the previous release, due to some QC criteria such as Hardy-Weinberg equilibrium test or read depth.

    Outline of our newly opened data
    Data set

    The positions, allele frequencies and allele counts of all SNVs in the whole-genome reference panel of Japanese of Tohoku Medical Megabank Project.

    Means of access

    Through iJGVD (integrative Japanese Genome Variation Database) 
    Click “Download (3.5KJPN)”

    Terms of use

    Users can immediately download the data upon agreement to follow our user guidelines which include: 1) allowed to use only for non-profit (academic) purposes; 2) prohibition of identification of the cohort participants; 3) prohibition of contact with the cohort participants; etc.

     

    We have already opened the data set for 1,070 Japanese individuals (1KJPN) in December 2015 and 2,049 (2KJPN) in Jume 2016, and they are downloaded all over the world.

    References

    Announcement: Access for the locations and allele frequencies of all SNVs in the Whole Genome Reference Panel (2015/12/10)

    Release of locations and allele frequencies of all SNVs in whole genome sequences of 2,049 Japanese individuals