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Expanding NGS Data with Optical Genome Mapping (OGM)
Sponsor: IRCCS Eugenio Medea
Summary
Over 50% of pediatric neurological and neurodevelopmental disorders lack a molecular diagnosis after standard DNA sequencing and molecular karyotyping. This is due to technical limitations, incomplete variant interpretation, and inadequate genotype-phenotype correlations. New sequencing technologies are crucial for clinical decision-making, offering complete profiles of variants in a patient's DNA to personalize treatment. Optical Genome Mapping (OGM) can detect nearly all structural variants in one experiment. This project aims to use OGM alongside NGS to improve diagnostic yield in 60 children with severe disorders who tested negative for NGS/CMA.
Official title: Expanding NGS Data with Optical Genome Mapping (OGM): More Comprehensive Variant Detection in Children with Unexplained Rare Genetic Disorders
Key Details
Gender
All
Age Range
2 Years - Any
Study Type
INTERVENTIONAL
Enrollment
60
Start Date
2024-05-23
Completion Date
2026-12
Last Updated
2025-02-28
Healthy Volunteers
No
Conditions
Interventions
Optical Genome Mapping (OGM) and Whole Genome Sequencing (WGS)
After identifying causal SVs via OGM, WGS will determine rearrangement breakpoints and examine nearby genes within 100 kb that may have altered expression due to positional effects.
Trascriptome analysis
Following genomic characterization results, transcriptome analysis will be performed on patient-derived lymphoblastoid B-cell lines or fibroblasts to investigate the molecular implications of candidate SVs found in the OGM analysis and identify potential transcriptome abnormalities, such as splicing variants, in patients with atypical clinical features.
Locations (1)
Cytogenetic Unit of Medical Genetic Laboratory
Bosisio Parini, Lecco, Italy