joel defo

I’m a bioinformatician and human genetics researcher who built my career around statistical signal recovery in complex disease. In my PhD in Human Genetics at the University of Cape Town, I worked on “Leveraging gene/sub-network meta-analysis to recover signal and deconvolute the interactions between genes in the Risk of Genetic Disorders,” developing gene- and subnetwork-level GWAS meta-analysis frameworks and integrating GWAS summary statistics with pathway and network data.

In my postdoctoral role in the Division of Human Genetics, I focused on RNA-seq analysis for gene expression profiling in Lynch Syndrome colorectal cancer. I also conducted cell-type deconvolution and multi-omics data integration, applying machine learning approaches for classification, clustering, and disease progression modelling, while building bioinformatics workflows on HPC systems.

Across my work, I’m deeply comfortable taking analyses from raw NGS to interpretable biological insight. I develop and run end-to-end pipelines (including variant calling and differential expression workflows) and use specialized tools for genomic association, imputation/phasing, population structure, and network/pathway analysis to ensure methodological rigor and reproducibility.

I also bring leadership and communication into research settings. As a Scientific Program Manager (remote), I led scientific development of research strategies for novel therapeutic pathways, collaborated with multidisciplinary R&D teams, managed end-to-end project execution, and supported data-driven decision-making; alongside this, I’ve taught Linux/R/RStudio and genetics concepts through tutoring and teaching assistant roles.