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) |
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
- Integrating GWAS and expression data for functional characterization of disease-associated SNPs: an application to follicular lymphoma. Am J Hum Genet. 2013; (1): 126-30
- Systematic functional regulatory assessment of disease-associated variants. Proc Natl Acad Sci U S A. 2013
- The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res. 2013; (5): 749-61
- Desktop transcriptome sequencing from archival tissue to identify clinically relevant translocations. Am J Surg Pathol. 2013; (6): 796-803
- Examination of the relationship between variation at 17q21 and childhood wheeze phenotypes. J Allergy Clin Immunol. 2013; (3): 685-94
- A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012; (6070): 823-8
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