Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing

作者: Stephanie Hallam , Heather Nelson , Valerie Greger , Cynthia Perreault-Micale , Jocelyn Davie

DOI: 10.1016/J.JMOLDX.2013.10.006

关键词: AllelePopulation basedBiologyDNA sequencingRobustness (evolution)MutantGeneticsClinical PracticeGeneCarrier screening

摘要: … of cancer, 2 but carrier screening assay development has been … the validation for clinical use of the first multigene carrier … .5, 6 In addition, carrier testing for these genes is recommended …

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