The Belgian Genome Resource to Resolve Rare Diseases | NCT07051213 | Trialant

The Belgian Genome Resource to Resolve Rare Diseases | NCT07051213 | Trialant

Sponsor/Collaborators Module

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Standard of Care including Whole Exome Sequencing	Active Comparator	Standard of care consisting of a combination of a chromosomal microarray or shallow whole genome sequencing (standard of care copy number variant analysis in the concerned genetic center) with whole exome sequencing.	Diagnostic Test: Whole exome sequencing
Whole Genome Sequencing	Experimental	Whole genome sequencing (primary analysis using a similar pipeline as the one used for whole exome sequencing - re-analysis using Emedgene to detect potential repeat expansions, structural and/or intronic variants)	Diagnostic Test: Whole genome Sequencing

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Whole exome sequencing	Diagnostic Test	Whole exome sequencing using Illumina short read sequencing	Standard of Care including Whole Exome Sequencing

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Whole genome sequencing (WGS) performance compared to Whole exome sequencing (WES) performance	The primary outcome measure is to determine whether whole genome sequencing is able to improve the diagnostic yield of next-generation sequencing for developmental disorders.	From enrollment to reporting the results of the analysis : target turn around time of 6 months

Condition Browse Module