Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Genet Med
; 16(7): 510-5, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-24406459
ABSTRACT
PURPOSE:
Sanger sequencing is currently considered the gold standard methodology for clinical molecular diagnostic testing. However, next-generation sequencing has already emerged as a much more efficient means to identify genetic variants within gene panels, the exome, or the genome. We sought to assess the accuracy of next-generation sequencing variant identification in our clinical genomics laboratory with the goal of establishing a quality score threshold for confirmatory Sanger-based testing.METHODS:
Confirmation data for reported results from 144 sequential clinical exome-sequencing cases (94 unique variants) and an additional set of 16 variants from comparable research samples were analyzed.RESULTS:
Of the 110 total single-nucleotide variants analyzed, 103 variants had a quality score ≥Q500, 103 (100%) of which were confirmed by Sanger sequencing. Of the remaining seven variants with quality scores
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
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Análise de Sequência de DNA
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Polimorfismo de Nucleotídeo Único
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Técnicas de Diagnóstico Molecular
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Sequenciamento de Nucleotídeos em Larga Escala
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Exoma
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Estados Unidos