Biography
Dr. Stephen Montgomery is the Stanford Medicine Endowed Professor of Pathology and Professor of Genetics, Biomedical Data Science and, by courtesy, Computer Science at Stanford University. He leads a dynamic lab where his team blends functional genomics and sophisticated bioinformatics to unravel the molecular roots of genetic diseases. His research prominently features in numerous large-scale consortia, such as GTEx and MoTrPAC. Dr. Montgomery's laboratory is renowned for developing innovative transcriptome-based methods. These breakthroughs are pivotal for uncovering impactful rare variants in diverse groups, ranging from individuals and families to broader populations. His approaches are also unique in their ability to measure gene-by-environment interactions. His expertise extends to multi-omics studies of global populations showcasing his labs commitment to inclusive and diverse genomics research. Dr. Montgomery is a leader in the discovery and interpretation of rare variants using multiomics, and his work in building genomic databases for RNA diagnostics sets him apart in the field. He is also a key contributor to the integration of long-read sequencing and RNA sequencing for more accurate variant interpretation, a technique crucial in precision medicine.