Carrier screening by next‐generation sequencing: health benefits and cost effectiveness

@inproceedings{Azimi2016CarrierSB,
  title={Carrier screening by next‐generation sequencing: health benefits and cost effectiveness},
  author={Mohammad S. Azimi and Kyle Schmaus and Valerie Greger and Dana Neitzel and Robert Rochelle and T. Dinh},
  booktitle={Molecular genetics & genomic medicine},
  year={2016}
}
BACKGROUND Compared with conventional genotyping, which typically tests for a limited number of mutations, next-generation DNA sequencing (NGS) provides increased accuracy for carrier screening. The objective of this study was to evaluate the cost effectiveness of carrier screening using NGS versus genotyping for 14 of the recessive disorders for which medical society guidelines recommend screening. METHODS Data from published literature, population surveys, and expert opinion were used to… CONTINUE READING
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