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

29 Jan 2016

Abstract excerpt

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:...

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PMID: 27247957
DOI: 10.1002/mgg3.204

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