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I'm still not 100% sold on these big sequencing projects. Sure, you get the genomes of a bunch of individuals, and then you do a bunch of GWAS on it to see if y
by hirenj 15y ago
I'm still not 100% sold on these big sequencing projects. Sure, you get the genomes of a bunch of individuals, and then you do a bunch of GWAS on it to see if you can find some mutations that are linked to any phenotypes. It just doesn't seem very exciting. I love the idea that if you're working on any cell line/individual, you can just get it sequenced for decreasing amounts of money, but I'd love to be sold on some big picture stuff as to why 1000 genomes matters (and if GWAS actually has lived up to its promise).
That said, I've got a paper coming out real soon now that looked at the relationship between mutations across individual strains of Arabidopsis, and how (surprise surprise) you have fewer mutations in areas of proteins that potentially carry function, so I do think it's somewhat useful!
- lisper 15y ago> why 1000 genomes matters Gotta start somewhere. And 1000 data points is more than enough to get some statistically significant results.
- pedrobeltrao 15y agoUnfortunately, as far as I know there is very little useful phenotypic data along with these genomes to work with. I would rather have fewer genome sequences with better phenotypic information. Even with just 35 genome sequences of "individual" yeast genomes I could do a lot more interesting analysis because they are well studied in turns of phenotypes.
- gpurkins 15y agoThe point is to look at genomic variations across the entirety of the human genome, not so much to match genomic variation to phenotype. What you're saying makes sense, but I think that is more a next step.
- gpurkins 15y agoThe real reason for a lot of this is personalized medicine, or rather more specific medicine. A gene translocation or even a SNP may be able to differentiate cancer types and change the course of treatment.