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Author Topic: Browse your genome online
Sean Monahan
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This is one of the coolest things I have ever seen: 23andMe

Time Magazine named this Invention of the Year for 2008, but I've only just recently heard of it.

I ordered my spit kit yesterday.

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Mucus
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To be picky, you can't actually browse your genome. (Although what they do do is still pretty cool. I might try it myself)

From their FAQ:
quote:
Genotyping is the process of determining which genetic variants an individual possesses. Genotyping can be performed through a variety of different methods, depending on the variants of interest and resources available. At 23andMe, we look at SNPs, and a good way of looking at many SNPs in a single individual is a recently developed technology called a “DNA chip.”

Sequencing is a method used to determine the exact sequence of a certain length of DNA. Depending on the location, a given stretch may include some DNA that varies between individuals, like SNPs, in addition to regions that are constant. So sequencing is one way to genotype someone, but not the only way.

You might wonder, then, why we don't just sequence everyone's entire genome, and find every single genetic variant they possess. Unfortunately, sequencing technology has not yet progressed to the point where it is feasible to sequence an entire genome quickly and cheaply. It took the Human Genome Project over 10 years' work by multiple labs to sequence the three billion base pair genomes of just a few individuals. For now, genotyping technologies such as those used by 23andMe provide an efficient and cost-effective way of obtaining more than enough genetic information for scientists—and you—to study.

You can literally browse Craig Venter's genome online because it is sequenced. You won't be able to browse yours via this service.
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Sean Monahan
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You are correct in that they don't sequence the whole genome. But you can browse the info they do provide. Sign up for the demo, and click the link labelled "Browse Raw Data". You can browse through every chromosome.

EDIT: To be sure, it is a small percentage, less than one percent of each chromosome it looks like. Still a lot though.

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Mucus
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I will definitely try that out.

I'm just being picky really, but its just that when scientists use the word "genome" they usually really mean the entire thing. Thats one of the reasons why the word genome was used as a launching point for words like proteome and transcriptome which mean an entire set of proteins for an organism and an entire set of mRNA respectively.

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swbarnes2
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The genotypes they give are probably going to be accurate, but the problem is that no one knows what to make of them now. So you have a amino-acid changing mutation in some gene. Does that have a phenotypic effect? Who knows? Maybe one study showed a correlation between mutations in that gene and some phenotype, but what usually happens is that larger studies will fail to replicate the finding.

10 years from now, will updated annotations be availible, so you can get a more accurate sense of what implications your SNPs have?

$400 just seems like a lot for a slew of data that won't mean very much, (if they told me that such and such mutation lead to a higher rate of heart disease, I wouldn't trust it without a whole lot of PubMed searching, and maybe not even then) that will be missing many diagnostically useful SNPs that will be discovered in the future, and that won't have any CNV data or methlyation data either.

Now, if your phentoype leads you to have candidate genes or candidate mutations in mind, then I think that sequencing and genotyping could be very helpful. But getting thousands of mutations in thousands of genes, not knowing which mutations have what impacts, is just not going to be very helpful. It's just a $400 curiosity.

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