SNPedia: DNA variations everywhere July 23, 2007
Posted by Dr. Bertalan Meskó in Bioinformatics, DNA, genetics, Medicine, Medicine 2.0, science, Web 2.0, Wiki.trackback
I’ve recently come across the SNPedia wiki which has been created to serve as a SNP (Single nucleotide polymorphism) database. What is a SNP? According to Wikipedia:
Single nucleotide polymorphism or SNP (pronounced snip) is a DNA sequence variation occurring when a single nucleotide – A, T, C, or G – in the genome (or other shared sequence) differs between members of a species (or between paired chromosomes in an individual). For example, two sequenced DNA fragments from different individuals, AAGCCTA to AAGCTTA, contain a difference in a single nucleotide. In this case we say that there are two alleles : C and T. Almost all common SNPs have only two alleles.
In SNPedia, you can learn how these variations in your DNA may trigger diseases as the wiki focuses on the SNPs which are believed to influence your health. There is a fantastic amount of data and you can browse by genes or even medical conditions. The to-do list is really scary.
Moreover, here is a list about what kind of SNPs James Watson has. For example, his DNA contains a SNP that may implicate a risk for Alzheimer’s disease. Follow their blog for more!
Anyway, why is it an important and clever idea?
We believe that if we can identify more and more SNPs and we can find out how these variations trigger diseases, then we just constructed the basics of personalized genetics. Imagine a world where you just have your genome sequenced, and after identifying your SNPs (I mean at least all the most popular ones), they can tell you what kind of diseases you have elevated risk for. Isn’t it futuristic? Actually, it should be reality in about 5 years or am I too optimistic again?
Hsien, Steven, Jason! What do you think?
Related links:
- 10 Tips for How to Use Web 2.0 in Medicine
- Genetic Wikis
- Medicine in Wikipedia and Citizendum
- Medical wikis: the future of medicine?
i’m just 3years in this SNP’s world (had some project on artherosclerosis), but all these reported “associations, links etc.” findings have also the same amount of contra-data, where the SNP’s are found not be linked to certain disease. The solution: large scale collaborative international studies and metaanalyses for a wider application or local population based studies for local use.
And don’t forget that SNP, or polymorphism, it’s maily a statistical term – a variant which has a frequency more than 1% in a population. This definition tells you nothing about the clinical implication of this variant for a phenotype. Some currently nonpathogenic polymorphisms can turn into pathogenic one day, when more data accumulate. It a long way ahead, i think.
It’s getting more and more complicated. Thank you for the valuable comment, Ramunas! Maybe, one day, you should write about it on cancer.genetics.com.
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Is it really worth identifying personal sequence variations while many confounding factors like environmental and dietary associations that may interfere in delineating disease susceptibility predictions, remain unknown. We still don’t understand the role and functional mechanism for each and every gene, nor do we understand the exact underlying molecular basis of each and every disease! And as Hsein puts it, common sense tells us that eating a lot of fat would give us cardiovascular complications even if we don’t have that spooky SNP!