Personal Genome Explorer

Laborjournal 4/2008 reports a new software tool for DNA addicted people: the Personal Genome Explorer which is based on SNP annotation by SNPedia. So, what I tried to institutionalize on a sound level as “Genome Explained” possibly within the framework of HGVS is now being done by a street initiative fueled by early adopters like Cross, Arlington, Halamka and Smolenyak. It looks very much like an unholy alliance of profit interests and technical curiosity than good science and responsible counseling, yea, yea.
Addendum: If you believe in support vector machines, you can even let your laptop screen the medical literature for genetic associations with GAPscreener. <irony> No more lengthy training in genetics, statistics, epidemiology and bioinformatics, no more years of collecting all relevant papers & abstracts, just let your laptop score your DNA variants </irony>


  1. The GAPscreener won’t help score your DNA variants but it can help you stay on top of the genetic association literature by screening PubMed for relevant abstracts. You still have to read the papers and interpret the data for yourself, so all that lengthy training is not in vain! The HuGE Navigator ( is updated weekly with a combination of automated processes (including GAPscreener) and manual curation. The Genopedia view summarizes at the gene level what association studies and meta-analyses are available in PubMed and helps retrieve them. But for the rs numbers, odds ratios and p-values it is still necessary to read the articles and draw your own conclusions.

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