Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Keun Soo Lee; Seung Hwan Oh; Ja Young Lee; Go Hun Seo; Da Eun Roh; Ji Kyoung Park; Bo Lyun Lee

doi:10.3345/cep.2025.02775

April 22, 2026Clinical and Experimental PediatricsOpen Access

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

View Full Paper

Ask AI

Bookmark

Share

Key Points

This research aims to evaluate the effectiveness of whole exome and genome sequencing in diagnosing pediatric neurodevelopmental disorders (NDDs).
Assess the effectiveness of whole exome sequencing (WES) and whole genome sequencing (WGS) in diagnosing pediatric NDDs.
Implement phenotype re-evaluation and selective genetic tests such as CMA and repeat expansion analysis.
Evaluate the improvement in diagnostic yield from these interventions.
WES and WGS significantly enhance the diagnostic yield in pediatric NDDs.
Selective genetic testing methods contribute to improved diagnostic accuracy.
Phenotype re-evaluation plays a crucial role in identifying potential genetic mutations.

Implication

Demonstrates improved diagnostic yield in pediatric neurodevelopmental disorders, suggesting enhanced genetic testing protocols.

Abstract

: WES and WGS are effective diagnostic tools for pediatric NDDs. Phenotype re-evaluation and the selective use of genetic tests such as CMA and repeat expansion analysis enhance diagnostic yield.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Lee et al. (2026) studied this question.

synapsesocial.com/papers/69ec59c688ba6daa22dab7e4 https://doi.org/10.3345/cep.2025.02775

View Full Paper

Ask AI

Bookmark

Share

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Key Points

Implication

Abstract

Discussion

Cite This Study

Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders

Key Points

Implication

Abstract

Discussion

Cite This Study

Keep reading

Keep reading