Stephen B. Montgomery
Academic Appointments
- Assistant Professor, Pathology
- Member, Child Health Research Institute
- Member, Bio-X
- Assistant Professor, Genetics
- Assistant Professor (By courtesy), Computer Science
Key Documents
Contact Information
- Academic Offices
Personal Information Email Tel (650) 725-9641
Professional Overview
Administrative Appointments
- Director of Genome Informatics, Department of Pathology (2011 - present)
Professional Education
| B.A.Sc.: | University of British Columbia, Engineering Physics (2002) |
| Ph.D.: | University of British Columbia, Genetics (2006) |
Postdoctoral Advisees
Internet Links
Scientific Focus
Current Research Interests
We focus on understanding the effects of genome variation on cellular phenotypes and cellular modeling of disease through genomic approaches such as next generation RNA sequencing in combination with developing and utilizing state-of-the-art bioinformatics and statistical genetics approaches. See our website at http://montgomerylab.stanford.edu/
Publications
- A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012; (6070): 823-8
- Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 2012; (4): e1002639
- DNA methylation profiles of human active and inactive X chromosomes. Genome Res. 2011; (10): 1592-600
- Epistatic selection between coding and regulatory variation in human evolution and disease. Am J Hum Genet. 2011; (3): 459-63
- From expression QTLs to personalized transcriptomics. Nat Rev Genet. 2011; (4): 277-82
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