Lethukuthula L. Nkambule

This study evaluates variant scoring methods across different selection regimes, showing their performance depends on variant-to-gene and gene-to-disease factors.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

The paper harmonizes diverse human genomes from multiple datasets to create a new reference panel with improved variant coverage and population structure analysis.

The paper presents phenotype and genetic analysis of 206 children with neurodevelopmental disorders from Kenya and South Africa, identifying pathogenic variants in 17% of South African and 38% of Kenyan cases.

gwaRs provides a user-friendly R Shiny web app for visualizing GWAS data with plots like Manhattan and PCA, accessible to non-specialists.