Phelelani Thokozani Mpangase

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 analyzes epigenetic gene variants in African and European populations to find frequency differences, trait associations, and functional impacts.

This paper presents a blood regulatory variation map from Southern African populations, showing increased utility for interpreting African genetic studies.