Oped arguing that the Human Genome Project was a dud. I don't fully agree, but I do agree that a sequence of nucleotides on its own is not enough & there hasn't been as much short-term fruit as was widely hoped.https://www.dallasnews.com/opinion/commentary/2019/10/13/was-the-human-genome-project-a-dud/ …
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It's literally impossible to even know whether a patient has a pathogenic brca mutation or not without having the human reference genome. And then, of course there's the whole field of Onco targeted therapies. Very rare that I get worked up about random articles.
you may have a point but eg could you some of that with specific reference points (eg data on brca) rather than whole genome? how much (not a rhetorical question) does full genome buy you?
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Not sure I get the question exactly, but here goes. Everytime you sequence the genome of a patient (for any reason, let's say ascertaining brca mutations) you need to compare what sequence you get against the human reference genome. This comparison gives you 'variants'.
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These variants are then analysed to see whether they are disease causing (pathogenic) or not (benign). The entire genetic testing and targeted therapy industry relies on this.
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Just not BRCA, if you think of what we learnt from these, then it’s not “dud” - TCGA(https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga …) - ENCODE: https://www.encodeproject.org/ - HapMap: https://www.genome.gov/10001688/international-hapmap-project … - 1000 genomes: http://www.internationalgenome.org/
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I just wrote a short thread here. Would be happy to get feedbacks & critiques. But totally trashing HGP just on basis of a few disease for me is not justified.https://twitter.com/ivivek87/status/1183571707438813185?s=21 …
“Oversell” may be but “Dud” I mean
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- can we generalize entire HGP as it couldn’t substantially progress schizophrenia & depression?
- did HGP not teach us anything else?
- How did term “microbiome” got coined?
- Isn’t studying it an oversell? 
https://www.dallasnews.com/opinion/commentary/2019/10/13/was-the-human-genome-project-a-dud/ …Show this thread
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