Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

BACKGROUND: Detecting mutations in disease genes by full gene sequence analysis is common in clinical diagnostic laboratories. Sanger dideoxy terminator sequencing allows for rapid development and implementation of sequencing assays in the clinical laboratory, but it has limited throughput, and due...

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Detalles Bibliográficos
Autores principales: Chin, Ephrem LH, da Silva, Cristina, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599218/
https://www.ncbi.nlm.nih.gov/pubmed/23418865
http://dx.doi.org/10.1186/1471-2156-14-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599218/
https://www.ncbi.nlm.nih.gov/pubmed/23418865
http://dx.doi.org/10.1186/1471-2156-14-6

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