Genome Medicine · 2014 · 12 citations · 8 references
MedicineGeneticsGenetic CounselingGenomicsMolecular DiagnosticsDna SequencingMolecular ScreeningNext-generation SequencingPopulation ScreeningScreeningScreening AssaysCarrier ScreeningCarrier Screening CounselingCarrier TestingGenetic Carrier ScreeningNext-generation Sequencing AssaysNext-generation Sequencing ScreeningSequencing-based Screening
Next-generation sequencing (NGS) methodology allows for a major expansion in current carrier screening tests. NGS testing has been shown to be analytically accurate and cost-effective, but major challenges include educational and counseling issues.
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