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  • Information on exome data sharing

    At his blog, Georgia Institute of Technology's Jung Choi is sharing his exome data from 23andMe. Choi spares no detail, discussing the specifics about how his data arrived, as well as what all that information looked like when he unpackaged the once-encrypted files. And there was plenty of information:

    Given over 100,000 total variants, which should I look at first? Which of these are most likely to influence my health or appearance or behavior? Which of these have the most impact on me being me?
    Choi says that his data indicate that about 15 percent of his predicted exome variants are rare or unique. "As more exomes and whole genomes are sequenced, the proportion of 'unique' variants will diminish, but the 15 percent proportion of rare variants is unlikely to shift significantly," he adds.

    About jchoigt
    I'm an Associate Professor in the School of Biology at Georgia Tech, and Faculty Coordinator of the Professional MS Bioinformatics degree program.

    Link to site:

    About 5 months after I sent my saliva to 23andMe, I received an email that my exome results were ready. The data were in a large (4.2 GB) encrypted file folder, that could be opened only after I ha…


    From: Wayne Kauffman at Rootsweb
    Subject: [DNA] Exome mining source - y-SNPs
    Date: Mon, 9 Jul 2012 16:13:46 -0700 (PDT)

    For those interested in mining Exome results for new y-SNPs take a look at the data contained on

    There should be about 88,710 y-bases covered in the results for the male samples. Even if they were sequenced as part of the 1000 genomes project the additional coverage may be useful for identifying SNPs.


    We should see a couple of additional 23andMe y-chromosome BAM files go public this week. Will my 2+ novel y-SNPs remain unique as these other sources are mined?
    FullGenomes Kit 045DV YFull Terminal SNP Y2846 FTDNA Kit 52277 M35>V12>CTS693>CTS3346>Y2877>CTS6667>CTS8411>Y2846 MTdna U4b1a3a

  • #2
    The Repositive platform (https://repositive.io/?SEQanswers) is an online portal and community of users that facilitates finding, accessing, and sharing of published genomic data.

    You can find all of my Corpasome family data, including 23andMe, exomes and VCF files using the Repositive platform.

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