Browsing HMS Scholarly Articles by Keyword "carrier screening"

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    • Next-generation carrier screening 

      Umbarger, Mark A.; Kennedy, Caleb J.; Saunders, Patrick; Breton, Benjamin; Chennagiri, Niru; Emhoff, John; Greger, Valerie; Hallam, Stephanie; Maganzini, David; Micale, Cynthia; Nizzari, Marcia M.; Towne, Charles F.; Church, George M.; Porreca, Gregory J. (Nature Publishing Group, 2014)
      Purpose: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation ...