Thursday, August 21, 2014

Promethease and SNPedia: Sites Worthy of Honor, Respect, and Support

As I've remarked in earlier posts, my genes have been sequenced through various companies and the results have been analyzed through a very interesting organization and website called Promethease and the wiki site SNPedia, founded in 2006 by Greg Lennon. It would be a good idea to support their work. My results have been amazing and life-changing. 

The name Promethease itself could derive from legends surrounding Prometheus which typically have to do with honor and support.

PROMETHEUS Statue Courtesy: Buchhandler
Promethease is a fascinating site and company where you can directly send your genome data from another site such as 23andMe or most other sources and receive reports on your gene SNPs (or "snips), the so-called snips of your genes that make you who you are, and that make you different from your family. It's useful for everyone: members of large families who will learn more about their individual genetic predispositions and traits, orphans who could learn more personal family names or disease risks, and anyone can learn more about family lineages going back hundreds of years. For each person, genetic results are different. Certainly the healthcare field of doctors can use it as a research resource, genealogists searching for quirky character traits, maybe police forces searching forensically for an individual's DNA data. The uses for genetic information is in its infancy. Genetic data can be another useful and time-saving device and it's limited only by imagination.

A connected compendium of SNP results is organized into a wiki called SNPedia, founded by Greg Lennon and Mike Cariaso, both also of Promethease. Mike has made many informational videos explaining how to use the site.  SNPedia is a resource that can be used by the medical field around the world. It's meant to be updated like Wikipedia by doctors and medical students and provide  a database useful for biomedical research and discovery. SNPedia lists medical papers related to diseases connected to genes and SNPs, and much that is currently known about the current field of DNA interpretation.

Incoming Stanford and Harvard medical students will have their genes sequenced and will learn how to analyze genetic results to help patients in the future. That's how important this field is. As well as medics, anyone searching for medical information can broaden their understanding of disease and personality characteristics. Genealogists can find clues when paper trails have run their course and evolutionary biologists and anthropologists can use it as a resource. Many professionals now have another avenue to use for investigations, and have been finding that DNA can answer longstanding mysteries.

It's possible to look at a website about SNPs at the National Institutes of Health (NIH), but that website, unlike Promethease, doesn't give you a definition of each one of your SNPs, tell you whether your particular allele is in "good" or "bad" repute, how your personal risk compares in percentage size to the world population of your ethnicity. The NIH gives chromosomal raw numbers but without interpretation such as that found on Promethease, all that data is useless. The search mechanism of Promethease makes use of NIH's ClinVar (Clinical Variants) information from the National Center for Biotechnology Information, which also aggregates and archives information, but doesn't yield popularly-useful interpretations. Promethease, in contrast, goes much further and describes what each SNP is and what diseases and traits it determines.

 At the related SNPedia site, it's possible to find papers to research for more information, and papers are continually updated into the site every day. For that reason, downloading your gene data into the site will yield updated information as the site forgets information after 45 days. The data is only searchable on Promethease when it's fresh, but can be kept in your files. Whether the service is free or not depends on whether you'd like to wait hours for the report or have it in a few minutes, and that cost is only five dollars, for results that were unavailable until now in any medium and will quickly become priceless to you. It's an easy to do and easy to understand. Recommend putting this on your to-do list. Everyone should try this at home.

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