Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

PURPOSE: Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger sequencing in parallel. Utilizing this strategy, we aimed at optimizing exome...

Descripción completa

Detalles Bibliográficos
Autores principales: Bauer, Peter, Kandaswamy, Krishna Kumar, Weiss, Maximilian E. R., Paknia, Omid, Werber, Martin, Bertoli-Avella, Aida M., Yüksel, Zafer, Bochinska, Malgorzata, Oprea, Gabriela E., Kishore, Shivendra, Weckesser, Volkmar, Karges, Ellen, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752300/
https://www.ncbi.nlm.nih.gov/pubmed/30100613
http://dx.doi.org/10.1038/s41436-018-0016-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752300/
https://www.ncbi.nlm.nih.gov/pubmed/30100613
http://dx.doi.org/10.1038/s41436-018-0016-6

Ejemplares similares