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...

詳細記述

書誌詳細

出版年:	Diagnostics
主要な著者:	Ewa Janicki, Marjan De Rademaeker, Colombine Meunier, Nele Boeckx, Bettina Blaumeiser, Katrien Janssens
フォーマット:	論文
言語:	英語
出版事項:	MDPI AG 2023-02-01
主題:	prenatal diagnosis whole exome sequencing chromosomal microarray diagnostic yield congenital anomalies
オンライン･アクセス:	https://www.mdpi.com/2075-4418/13/5/860