6 Realities of Genomic Research
        
            By Dan Koboldt, 
                Mass Genomics
             | 06. 19. 2015
        
                    
                                    
                    
                                                                                                                                    
                                                                            
                              
    
  
  
    
  
          
  
      
    
             
  Untitled Document 
  
The rise of next-generation sequencing has worked wonders for the   field of genetics and genomics. It’s also generated a considerable   amount of hype about the power of genome sequencing, particularly the   possibility of individualized medicine based on genetic information. The   rapid advances in technology — most recently, the Illumina X Ten system   — have made heretofore impossible large-scale whole-genome sequencing   studies feasible. I’ve already written about some of the possible applications of inexpensive genome sequencing.
 
  I’m as excited about this as anyone (with the possible exception of   Illumina). Even so, we should keep in mind that not everything is   unicorns and rainbows when it comes to genomic research. Here are some   observations I’ve made about sequencing-empowered genomic research over   the past few years.
 
  1. There is never enough power
 
  “Power” is a term that’s being discussed more and more as we plan   large-scale sequencing studies of common disease. In essence, it answers   the question, “What fraction of the associated variants can we detect   with this study design, given the number of samples, inheritance   pattern, penetrance, etc.?” Several years ago, when...
 
 
  
 
    
    
  
   
                        
                                                                                
                 
                                                    
                            
                                  
    
  
  
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