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Just to pick you up on one thing, we have sequenced thousands upon thousands of genomes since the human genome project finished. For example there is the 1000

Just to pick you up on one thing, we have sequenced thousands upon thousands of genomes since the human genome project finished. For example there is the 1000 genomes project [1], and a project I am working on is sequencing about 100 ovarian cancer tumor / normal pairs. Most of this sequencing is complete, its the bioinformatics that takes the time. GWAS studies (studies of correlation between disease and common SNP's) have not told us much that is actionable, but have provided us with "low hanging fruit" for further study, which is valuable. Its very early ways, but genomics will completely change the diagnosis and treatment of cancer over the next 10 years. [1] http://www.1000genomes.org/ http://www.1000genomes.org/

sausagefeet 15y ago
I'm curious what the world will look like when we are smart enough to become actionable with this information. Do we want to live in a world where someone in their garage can come up with a drug idea and send it to a PharmaFoundry to get their drug fabed and then sell it to people? Correct me if I am wrong, but we have sequenced thousands of genomes but not human. We only have a handful where handful is < 1000) of full human genomes AFAIK. 1000 genomes isn't done yet AFAIK (their page on sequencing progress is down unfortunately). The human reference genome is a mishmash of multiple genomes. It also contains huge sections of chromosomes that are just N's (blank) because assemblers are unable to determine what goes there. On top of that, an actual human genome is not one genome. At they very least there are alleles which can be different from each other and in general there can be many genomes (cancer). Haploid sequencing is coming, hopefully soon, if SMRT really pans out but, in my opinion, to say our knowledge of even the sequence data in a human is adequate is a stretch (I'm not saying that you said that).

sausagefeet 15y ago

I'm curious what the world will look like when we are smart enough to become actionable with this information. Do we want to live in a world where someone in their garage can come up with a drug idea and send it to a PharmaFoundry to get their drug fabed and then sell it to people? Correct me if I am wrong, but we have sequenced thousands of genomes but not human. We only have a handful where handful is < 1000) of full human genomes AFAIK. 1000 genomes isn't done yet AFAIK (their page on sequencing progress is down unfortunately). The human reference genome is a mishmash of multiple genomes. It also contains huge sections of chromosomes that are just N's (blank) because assemblers are unable to determine what goes there. On top of that, an actual human genome is not one genome. At they very least there are alleles which can be different from each other and in general there can be many genomes (cancer). Haploid sequencing is coming, hopefully soon, if SMRT really pans out but, in my opinion, to say our knowledge of even the sequence data in a human is adequate is a stretch (I'm not saying that you said that).