Nonoptical Massive Parallel DNA Sequencing of BRCA1 and BRCA2 Genes in a Diagnostic Setting

Human Mutation

Volumn 34, Issue 4, 2013, Pages 629-635

  Costa, José Luis ^a   Sousa, Sónia ^a   Justino, Ana ^a   Kay, Teresa ^b   Fernandes, Susana ^c   Cirnes, Luis ^a   Schmitt, Fernando ^a,c   Machado, José Carlos ^a,c  

^a UNIVERSITY OF PORTO   (Portugal)

^b Hospital Da Estefânia Lisboa ^*  (Portugal)

^c University of Porto   (Portugal)

Author keywords

BRCA1; BRCA2; Diagnostic; Ion torrent; NGS; Validation

Indexed keywords

ANALYTIC METHOD; ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DNA SEQUENCE; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; GENE AMPLIFICATION; GENE MUTATION; HEREDITARY BREAST AND OVARIAN CANCER SYNDROME; HUMAN; HUMAN TISSUE; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; ONCOGENE; PARALLEL DESIGN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY ANALYSIS; TUMOR SUPPRESSOR GENE; WORKFLOW;

ALLELES; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC TESTING; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; OVARIAN NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84875519657     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22272     Document Type: Article

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