Rare diseases [NEW TOPIC PAGE]

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Last Posted: May 10, 2018

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• Common genetic variants contribute to risk of rare severe neurodevelopmental disorders  
  MEK Niemi, et al. BioRXiV, May 6, 2018
• Medicine’s Wild West: 10 new genetic tests enter the market each day  
  CY Johnson, Washington Post, May 7, 2018
• The strategic defense of physician autonomy: State public health agencies as countervailing powers.  
  Senier Laura et al. Social science & medicine (1982) 2017 Aug 186113-121
• What is Whole Genome Sequencing?  
  K Grant, Public Health Matters Blog, May 2018
• Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.  
  Graham Emma et al. Journal of inherited metabolic disease 2018 May
• Exome Sequencing Helps Crack Rare Disease Diagnosis-Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.  
  AB Keener, The Scientist, May 1, 2018

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