Athey Lab
Computational Medicine: From Multiomics to Precision Health
The Athey Lab builds the measurements, models, and data resources that precision medicine depends on. In single-molecule sequencing, we develop long-read methods on Oxford Nanopore and PacBio HiFi, along with sequence-defined DNA standards that measure their accuracy. In pharmacogenomics, we use Cas9-targeted enrichment and nanopore adaptive sampling to sequence the genes that shape how patients metabolize and respond to drugs, from the structurally complex pharmacokinetic genes such as CYP2D6 and other cytochrome P450 pharmacogenes. Our lab has pioneered the field of pharmacoepigenomics. We were among the first laboratories to identify enhancer and promoter genetic variants that impact pharmacodynamic genes.
We work closely with the University of Michigan Rogel Cancer Center Joint Institute for cancer research with Singapore-based collaborators. With Professor Balram Chowbay at the National Cancer Centre Singapore (NCCS), we are applying advanced targeted long read sequencing methods to identify structurally complex diplotypes in CYP2D6 and its impact on the pharmacometabolic profiling for breast cancer patients treated with tamoxifen. With Professor Dennis Kappei at the Cancer Science Institute (CSI), housed in the National University of Singapore (NUS), we study telomere maintenance in cancers that lengthen telomeres without telomerase.
In biomedical AI and data science more generally, we build advanced AI platforms to enable our work and to support collaborations more broadly such as for health-system-scale neuroimaging, mobile precision approaches to mental health care, to vaccine ontologies, and the data core of an O'Brien National Kidney Research Center. These activities are funded by several NIH R01 and center grants.
Presentations
End Reason Filtering in Single Molecule Sequencing of Native DNA by Oxford Nanopore Technologies
DCMB Annual Retreat · 2025