변정혜 교수 연구실
article|
gold
·인용수 27
·2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay
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, Ji Eun 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
IF 6.4Molecular Medicine
초록
Daily updated databases and reanalysis systems enhance the diagnostic performance in patients with NDD/ID, contributing to the rapid diagnosis of undiagnosed patients by applying the latest molecular genetic information.
키워드
MedicineProbandExome sequencingMedical diagnosisPediatricsProspective cohort studyGenetic diagnosisExomeRetrospective cohort studyGenetic testing