Hi.
I’m a Computational Geneticist and Entrepreneur who is passionate about using cutting-edge science to positively impact global health. I received my PhD from Cold Spring Harbor Laboratory and did post-doctoral training at Columbia University. My academic research has focused on the role of non-coding genetic variation in disease. I have co-founded two companies, Fiix and Variant Bio.
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.
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, and deployment on mobile platforms. Fiix was acquired by Rockwell Automation in 2020.
Academic Research
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.
Tools for Functional Genomics
I have developed numerous tools for integrating genomic and transcriptomic data, particularly in the context of expression quantitative trait loci (eQTL) and allele-specific expression (ASE) analyses.
Recent Publications
A Southern African Map of Blood Regulatory Variation Enables GWAS Interpretation. medRxiv (2024).
Nothing about us without us: Sharing results with communities that provide genomic data. Cell (2024).
Mid-pass whole-genome sequencing in a Malagasy cohort uncovers body composition associations. HGG Advances (2024).
Mid-pass whole genome sequencing enables biomedical genetic studies of diverse populations. BMC Genomics (2021).
The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science (2020).
A vast resource of allelic expression data spanning human tissues. Genome Biology (2020).
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. Science (2019).
Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nature Genetics (2018).
Genetic effects on gene expression across human tissues. Nature (2017).
A full list of my publications is available through Google Scholar.