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Clinical exome sequencing—Mistakes and caveats

Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology. The learning curve we went through as a laborato...

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Detalles Bibliográficos
Autores principales: Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9541396/
https://www.ncbi.nlm.nih.gov/pubmed/35191116
http://dx.doi.org/10.1002/humu.24360