Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

• Main Authors: Go Hun Seo (Author), Hane Lee (Author), Jungsul Lee (Author), Heonjong Han (Author), You Kyung Cho (Author), Minji Kim (Author), Yunha Choi (Author), Jeongmin Choi (Author), In Hee Choi (Author), Seonkyeong Rhie (Author), Kyu Young Chae (Author), Yoo-Mi Kim (Author), Chong Kun Cheon (Author), Su Jin Kim (Author), Jieun Lee (Author), Eungu Kang (Author), Jung Hye Byeon (Author), Hee Joon Yu (Author), Young-Lim Shin (Author), Arum Oh (Author), Woo Jin Kim (Author), Mi-Sun Yum (Author), Beom Hee Lee (Author), Baik-Lin Eun (Author)
• Format: Book
• Published: BMC, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The diagnostic yield of whole-exome sequencing (WES) varies from 30%-50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients has increased the total diagnostic yield by 10-15%. He...