Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Genetics in Medicine

Volumn 16, Issue 7, 2014, Pages 510-515

  Strom, Samuel P ^a   Lee, Hane ^a   Das, Kingshuk ^a   Vilain, Eric ^a   Nelson, Stanley F ^a   Grody, Wayne W ^a   Deignan, Joshua L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Exome; Molecular diagnostics; Next generation sequencing; Variant confirmation

Indexed keywords

NUCLEOTIDE;

ARTICLE; CLINICAL LABORATORY; EXOME; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOMICS; HEALTH CARE COST; HUMAN; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; TURNAROUND TIME; DNA SEQUENCE; ECONOMICS; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PROCEDURES; SINGLE NUCLEOTIDE POLYMORPHISM; STANDARDS; VALIDATION STUDY;

EXOME; GENOME, HUMAN; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; VALIDATION STUDIES AS TOPIC;

EID: 84903284152     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.183     Document Type: Article

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