Lethukuthula L. Nkambule

Variant scoring performance across selection regimes depends on variant-to-gene and gene-to-disease components

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

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

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.

A harmonized public resource of deeply sequenced diverse human genomes

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

Phenotype and genetic analysis of data collected within the first year of NeuroDev

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: an R shiny web application for visualizing genome-wide association studies data

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