Rare diseases

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Last Posted: Jun 22, 2017

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• In a medical first, ‘long read’ DNA sequencing solves a diagnostic mystery  
  S Begley, StatNews, June 22, 2017
• "If It Helps, It's Worth a Try": an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites.  
  Gemmell Amber P et al. Journal of genetic counseling 2017 Jun
• Machine learning can detect a genetic disorder from speech recordings  
  University of Wisconsin at Madison, June, 2017
• Science didn't understand my kids' rare disease until I decided to study it  
  S Terry, TedMed Talk, 2017
• Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders  
  Raony G. C. C. L. Cardenas et al, PLOS Biology, June, 2017
• Why study rare genetic conditions?  
  N Rahman, TGMI blog post, June 2, 2017

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