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

Autor: Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L. M. Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard Rodenburg, Hans R. Waterham, Ron A. Wevers, Bart P. C. van de Warrenburg, Michel A. A. P. Willemsen, Nicole I. Wolf, Lisenka E. L. M. Vissers, Clara D. M. van Karnebeek

Publikováno v: Journal of Inherited Metabolic Disease, 45, 663-681
Wortmann, S B, Oud, M M, Alders, M, Coene, K L M, van der Crabben, S N, Feichtinger, R G, Garanto, A, Hoischen, A, Langeveld, M, Lefeber, D, Mayr, J A, Ockeloen, C W, Prokisch, H, Rodenburg, R, Waterham, H R, Wevers, R A, van de Warrenburg, B P C, Willemsen, M A A P, Wolf, N I, Vissers, L E L M & van Karnebeek, C D M 2022, ' How to proceed after “negative” exome : A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 663-681 . https://doi.org/10.1002/jimd.12507
Journal of Inherited Metabolic Disease, 45, 4, pp. 663-681

Contains fulltext : 282561.pdf (Publisher’s version ) (Open Access) 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 g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04ad9e023cdaf1de34da0124a754537
https://doi.org/10.1002/jimd.12507