How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a greater number of patients, but it still leaves the majority of patients without a diagnosis. In parallel, (personalized)...

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Detalles Bibliográficos
Autores principales: Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., van der Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., van de Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., van Karnebeek, Clara D. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539960/
https://www.ncbi.nlm.nih.gov/pubmed/35506430
http://dx.doi.org/10.1002/jimd.12507

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