Rare diseases

https://phgkb.cdc.gov/GAPPKB/phgHome.do

From CDC-Authored Genomics Publication Database

This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.

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• The need for a next-generation public health response to rare diseases.  
   Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Public Health and Rare Diseases: Oxymoron No More
  Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
• A statistical approach for rare-variant association testing in affected sibships.  
  Epstein Michael P et al. Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54
• Utilizing population controls in rare-variant case-parent association tests.  
  Jiang Yu et al. Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53
• The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.  
  Grosse Scott D et al. Genet. Med. 2014 Jan 16(1) 33-9

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