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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Chin, Ephrem LH, da Silva, Cristina, Hegde, Madhuri
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2013
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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