Clinical Trial: Expanding NGS Data with Optical Genome Mapping (OGM)

U.S., March 1 -- ClinicalTrials.gov registry received information related to the study (NCT06851377) titled 'Expanding NGS Data with Optical Genome Mapping (OGM)' on Feb. 24.

Brief 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...