Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Introduction: Rapid exome sequencing (rES) has become the first-choice genetic test for critically ill patients, mostly neonates, young infants, or fetuses in prenatal care, in time-sensitive situations and when it is expected that the genetic test result may guide clinical decision making. The impl...

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Bibliographic Details
Main Authors: Abderrahim Marouane, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-01-01
Series:Frontiers in Genetics
Subjects:
rapid exome sequencing
diagnostic workflow
turnaround time
clinical outcome
diagnostic yield
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1304520/full

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