Aimé Zola Lumaka

The paper demonstrates that integrating CNV detection into exome sequencing analysis improves diagnostic yield for developmental disorders in the DDD-Africa cohort by 8.3% without additional costs.

The paper describes international workshops training variant scientists on the ClinGen Variant Curation Interface (VCI) and reports on its usage and costs.

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.