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

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%. Here, we p...

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Detalles Bibliográficos
Autores principales: Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962085/
https://www.ncbi.nlm.nih.gov/pubmed/35346031
http://dx.doi.org/10.1186/s10020-022-00464-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962085/
https://www.ncbi.nlm.nih.gov/pubmed/35346031
http://dx.doi.org/10.1186/s10020-022-00464-x

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