[HN Gopher] Automated Genome Assembly
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       Automated Genome Assembly
        
       Author : bschne
       Score  : 27 points
       Date   : 2022-03-26 10:47 UTC (1 days ago)
        
 (HTM) web link (centuryofbio.substack.com)
 (TXT) w3m dump (centuryofbio.substack.com)
        
       | rflrob wrote:
       | > This is not just an academic exercise. This type of
       | technological progress has the potential to transform personal
       | genomics--where individual genomes can be used to inform health
       | decisions.
       | 
       | I don't think genetic interpretation is yet or will soon be at a
       | point where a significant number of people (say, greater than a
       | half of a percent) can benefit structural genome information,
       | much less have the field be transformed. Heck, we have a hard
       | enough time resolving the impact of single nucleotide variants in
       | coding regions. While large copy number variants have the
       | potential for significant impacts, for the most part we can
       | resolve these pretty well to the necessary level of detail with
       | current tech.
        
         | amirkdv wrote:
         | Yup. Great article overall until the bit you quoted.
         | 
         | Sure, it has the _potential_ to transform personal genomics,
         | but the (insanely cool) T2T project is indeed almost
         | exclusively an academic one.
         | 
         | Maybe I'm too cynical, but I think academics are wired to
         | automatically produce such declarations of Greater Societal
         | Impact simply because of how we, as a society, have decided to
         | allocate resources for scientific research.
        
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       (page generated 2022-03-27 23:01 UTC)