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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...
Autores principales: | Corominas, Jordi, Smeekens, Sanne P., Nelen, Marcel R., Yntema, Helger G., Kamsteeg, Erik‐Jan, Pfundt, Rolph, Gilissen, Christian |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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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 |
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