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I see the word DNA being bandied around here. I wonder if folks here understand the difference between "genotyping" (what 23andme does) and full "sequencing"? [
by wenc 7y ago
I see the word DNA being bandied around here. I wonder if folks here understand the difference between "genotyping" (what 23andme does) and full "sequencing"? [1]
Genotyping only returns variants of interest (SNPs) which are specified up front -- not the full sequence. It's a smaller dataset.
Sequencing gives you the full genome -- which is currently too expensive to do at consumer scale (though prices are falling). 23andme does not do this. This means the type of genetic research that 23andme can do is somewhat limited.
[1] https://customercare.23andme.com/hc/en-us/articles/202904600-Difference-Between-DNA-Genotyping-Sequencing https://customercare.23andme.com/hc/en-us/articles/202904600...
- kevin_thibedeau 7y agoNothing prevents them from reserving interesting samples for full sequencing.
- Symmetry 7y agoNothing prevents the owner of any bathroom you use from doing the same thing except, in both cases, the danger of being found out.
- kevin_thibedeau 7y agoYou would never get a clean sample that way.
- buboard 7y ago> which is currently too expensive to do at consumer scale There are companies that do that for $200, sequencing is the new genotyping! (which I hope will encourage more people to donate their data to open source databases, making the sale of this kind of data unprofitable)
- mjpuser 7y agoThe cheapest I could find in 2019 was $600 by Veritas Genetics for next-gen sequencing. 23andMe is SNP testing as OP said, which is cheaper.
- Thebroser 7y agohttp://arep.med.harvard.edu/gmc/genome_services.html http://arep.med.harvard.edu/gmc/genome_services.html Here are some more options! Some usually have holiday deals.
- buboard 7y agohttps://us.dantelabs.com/ https://us.dantelabs.com/ oh shoot. they had a deal last year, $200 for 30x coverage
- hobofan 7y agoIs genotyping data that useful for drug development? From my intuition, genotyping data (where you specifically look for already known gene variants) is per definition barely useful for making "breakthrough discoveries". If that were really the case I would expect a much higher price point than $300mil.
- asdff 7y agoIt absolutely is extremely useful. Your genetic predispositions toward disease, treatment response, anything really, can be due to a combination of these known variants. Tracing your ancestry is done with these variants. These are regions that are commonly variable in the population. https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism
- hyperbovine 7y agoThese days, thanks to large haplotypic reference panels, genotyping with an adequately dense array is more than sufficient to impute almost everything else with extremely high accuracy.* You might miss a few rare variants but not much else. *Assuming your ancestry is from a well studied population e.g. European.