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Larry Smarr at the 2012 GET Conference

June 14, 2012

MIT Tech Review recently described Larry Smarr as the “Patient of the Future.”  As part of the morning Pioneer Session at the 2012 GET Conference, Larry gave an overview of his quantified self journey that led him to aid the diagnosis of a chronic condition. Watch the video.

5 Comments
  1. July 9, 2012 8:07 pm

    @Jason Bobe: Okay thank you I see some new genomes are up. But it is disappointing that the files posted seem to include only dbSNP snps plus non-synonymous variants. Could you please also make accessible the CGI var files (as you did for PGP1-PGP10) or similar listings of all variants (including those that are synonymous or non-coding)?

    • July 9, 2012 8:46 pm

      We should have those too, we’re looking into it. Those are what is inputted to the genome interpretation software, so I think it’s important to include the original input for full transparency.

      However, I think you might not realize that the “dbSNP and nsSNP report” (GFF format) has almost all the data that’s in the CGI var file. The title means that this data has been *added* (amino acid change predictions aren’t in the CGI var file) — not that it’s limited to reporting these things. Regions confidently called as “matching reference” and all other variations (indels, substitutions, variations not in dbSNP) are included. (One thing that’s lost is that half-called locations in the CGI var file are treated as no-call by the GFF output, but I think it’s unlikely you were looking for this.)

      Whenever this subject comes up, I feel obligated to say that I’m not a fan of the GFF format — it’s a bit of legacy right now. But most of the data you might want is there I hope (please tell if there’s something you want that isn’t there, I’d like to know). You can read about the format here: http://evidence.personalgenomes.org/guide_upload_and_annotated_file_formats

  2. June 16, 2012 8:40 pm

    OT: I thought I read something where PGP was going to begin posting 15 genomes a month starting last month? Has that been pushed back?

    • Jason Bobe permalink*
      June 17, 2012 3:14 pm

      Yep, we will be publishing the first set of ~15 in about 1 week.

  3. June 15, 2012 9:57 am

    It is absurd to think that Larry Smarr’s outrageously expensive adventure in self-diagnosis has much applicability to the actual practice of medicine. It is an example of the great lengths to which patients will go in trying to figure out what the problem is in areas where traditional medicine doesn’t seem to give a damn. Many patients would give up on traditional medicine and seek out herbal remedies or acupuncture; Mr. Smarr just happened to have a pile of money, time, and computing power to throw at the problem. Neither the average person nor the health care system has that kind of time or money, and his adventure, while giving himself great personal satisfaction, did not accomplish much in the way of general scientific advancement nor to provide an example of how the typical patient’s problem might be efficiently and economically resolved.

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