Zané Lombard

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 examines how geography, ancestry, age, and sex influence the prevalence of somatic autosomal mosaic chromosomal alterations in blood across diverse populations.

This study uses short- and long-read metagenomics to analyze gut microbiomes in South African populations, revealing intermediate composition and novel taxa not captured by existing reference databases.