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. [electronic resource]
Producer: 20141028Description: 180-9 p. digitalISSN:- 1943-7811
- Cystic Fibrosis -- diagnosis
- Cystic Fibrosis Transmembrane Conductance Regulator -- genetics
- DNA Mutational Analysis -- methods
- Genetic Testing -- methods
- Heterozygote
- High-Throughput Nucleotide Sequencing -- methods
- Humans
- Reproducibility of Results
- Sensitivity and Specificity
- Tay-Sachs Disease -- diagnosis
- beta-Hexosaminidase alpha Chain -- genetics
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Publication Type: Journal Article
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