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Ivan
United States

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Status: DNA Moderator
Frog Laureate
Topic Started by Ivan
on 3/12/2009 16:05 PM   
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Interested in learning a little more about all the different human genome variations and their impact in health? The HuGE Navigator is the place to go. Some of the resources you can access include:


HuGEpedia: an encyclopedia of human genetic variations. Search for any gene (Genopedia) or disease (Phenopedia) and you'll get all sorts of information, from publications to links to other resources like GeneCard, SNPs associated with your gene, and even GWAs. A cool feature is a Google maps application that shows you where every study was performed.


I like searching for things, and one really cool application is Gene Prospector, a search engine that links any relevant gene (in order of relevance based on the literature) to your disease of interest.


And that is just the tip of the iceberg (i.e. the things I am interested in the most :) ). Other applications include the HuGE Literature Finder, Investigator Browser, Watch, and Variant Name Mapper.


Last but not least there is HuGE Risk Translator, an application that lets you calculate how good a predictor a marker like an SNP is towards a given disease (we discussed this at this Personal Sequencing thread). In other words, you can determine what percentage of a disease can be explained by a given SNP (or other genetic marker). Of course you need some information like the frequency of the given SNP in diseased individuals (from GWA studies for example), but once you get the information it is a pretty straight forward process.

Ivan Delgado Orlic
Carlsbad, CA


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