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

Journal of Molecular Diagnostics

Volumn 16, Issue 2, 2014, Pages 180-189

  Hallam, Stephanie ^a   Nelson, Heather ^a   Greger, Valerie ^a   Perreault Micale, Cynthia ^a   Davie, Jocelyn ^a   Faulkner, Nicole ^a   Neitzel, Dana ^a   Casey, Kristie ^a   Umbarger, Mark A ^a   Chennagiri, Niru ^a   Kramer, Alexander C ^a   Porreca, Gregory J ^a   Kennedy, Caleb J ^a  

^a Good Start Genetics Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA-HEXOSAMINIDASE ALPHA CHAIN; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; GENETIC TESTING; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TAY-SACHS DISEASE;

EID: 84894063593     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.10.006     Document Type: Article

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