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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...
Gorde:
Egile Nagusiak: | , , |
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Formatua: | Artigo |
Hizkuntza: | Inglês |
Argitaratua: |
BioMed Central
2013
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Gaiak: | |
Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3599218/ https://ncbi.nlm.nih.gov/pubmed/23418865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-14-6 |
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