Portrait of Stephane Castel

Hi.

I’m a Statistical Geneticist and Software Engineer who works at the intersection of science and AI to discover and develop new treatments for disease. I received my PhD from Cold Spring Harbor Laboratory and did post-doctoral training at Columbia University. My academic research has focused on using multi-omic data to uncover how genetic variation shapes human health. I have co-founded two companies, Variant Bio and Fiix.

Companies Co-founded

Variant Bio

There is a pressing need for new ways to treat disease, but drug development has become increasingly difficult due to high costs and failure rates. Human genetics has the power to transform drug development, because it uses human diversity to identify the basis of disease and resistance to it. Variant Bio is developing therapies that will improve global health by studying the genes of people who are outliers for medically relevant traits.

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Fiix Software

Fiix Software provides a cloud-based computerized maintenance management system (CMMS) for mid to large size enterprises. At its core, a CMMS tracks and schedules maintenance performed on equipment, inventory usage, and personnel time. Fiix has revolutionized the CMMS through ease of use, powerful data analytics, AI integration, and deployment on mobile platforms. Fiix was acquired by Rockwell Automation in 2020.

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Academic Research

Genomic Diversity

Much of my recent work has focused on building genomic resources for populations that have been historically underrepresented in genomic research. In South Africa, the South African Blood Regulatory (SABR) study produced the largest continental African QTL dataset to date, mapping regulatory variation in blood to enable the interpretation of GWAS findings. In Madagascar, mid-pass whole genome sequencing enabled the first genome-wide association study in the country. In the Faroe Islands, we generated the first whole genomes from the population, providing insight into its ancestry and recent selection. In Polynesia, we characterized the nested founder effects that shaped the settlement of the Pacific, from French Polynesia to Rapa Nui and Hawaiʻi, work featured on the cover of Science.

The Genotype Tissue Expression Project

The Genotype Tissue Expression (GTEx) project aims to understand the effect of genetic variation on gene expression across diverse human tissues, and is one of the largest eQTL studies to date. As a lead analyst in the GTEx Analysis Working Group I have contributed to studies of cis and trans regulatory effects, and am responsible for the generation and analysis of allele-specific expression data.

GTEx Portal

Recent Publications

  1. 2026Message in a bottleneck: Nested founder effects from French Polynesia to Rapa Nui and Hawaiʻi. Science
  2. 2026Faroese whole genomes provide insight into ancestry and recent selection. eLife
  3. 2025A map of blood regulatory variation in South Africans enables GWAS interpretation. Nature Genetics
  4. 2024Nothing about us without us: Sharing results with communities that provide genomic data. Cell
  5. 2024Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations. HGG Advances
  6. 2021Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations. BMC Genomics
  7. 2020The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science
  8. 2020A vast resource of allelic expression data spanning human tissues. Genome Biology
  9. 2019Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science
  10. 2018Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nature Genetics
  11. 2017Genetic effects on gene expression across human tissues. Nature

A full list of my publications is available through Google Scholar.

If you’d like to get in touch, drop me a line and let’s connect.