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Article

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.

Biomolecules - 8 Mar 2026

Krgovic Danijela, Gradisnik Peter, Osterc Koprivsek Andreja, Kogovsek Ana, Kokalj Vokac Nadja, Stangler Herodez Spela

Abstract excerpt

Background: Neurodevelopmental disorders (NDDs) are genetically heterogeneous, and exome sequencing (ES) is now a first-line diagnostic tool. However, many patients receive variants of uncertain significance (VUSs) or inherited variants with incomplete penetrance, limiting clinical interpretation. Emerging multi-omics evidence from the literature can support the interpretation of novel and rare variants, helping...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41897335
DOI: 10.3390/biom16030399
PMCID: PMC13023965

Genes

CHD4
KMT5B
SPTBN1

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