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

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

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...

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Main Authors: Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun
Format: Article
Language:English
Published: BMC 2022-03-01
Series:Molecular Medicine
Subjects:
Whole exome sequencing
Neurodevelopmental delay
Reanalysis
Online Access:https://doi.org/10.1186/s10020-022-00464-x

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