Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges

Whole exome sequencing (WES) has become part of the postnatal diagnostic work-up of both pediatric and adult patients with a range of disorders. In the last years, WES is slowly being implemented in the prenatal setting as well, although some hurdles remain, such as quantity and quality of input mat...

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Bibliographic Details
Main Authors: Ewa Janicki, Marjan De Rademaeker, Colombine Meunier, Nele Boeckx, Bettina Blaumeiser, Katrien Janssens
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Diagnostics
Subjects:
prenatal diagnosis
whole exome sequencing
chromosomal microarray
diagnostic yield
congenital anomalies
Online Access:https://www.mdpi.com/2075-4418/13/5/860

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https://www.mdpi.com/2075-4418/13/5/860

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