E.R. Gamazon

Main activities
Genomics, Statistical Genetics, Genetic Epidemiology, Bioinformatics, Psychiatry, Cancer Biology
Focus of research

At the intersection of computational biology, statistical genetics, and functional genomics, our primary research interest is in developing and extending methods for elucidating the genetic architecture of complex disorders and pharmacologic phenotypes. An ongoing project involves the genetics of gene expression and the use of expression quantitative trait loci (eQTLs) to expand on genetic association studies.

Key publications
  • Gamazon ER, Wheeler HE, Shah KP, Mozaffari SV, Aquino-Michaels K, Carroll RJ, Eyler AE, Denny JC, Nicolae DL, Cox NJ, Im HK, A gene-based association method for mapping traits using reference transcriptome data. NAT GENET 2015;47 (9):1091-+ [PubMed]
  • Gamazon ER, Cox NJ, Davis LK, Structural Architecture of SNP Effects on Complex Traits. AM J HUM GENET 2014;95 (5):477-489 [PubMed]
  • Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, Cox NJ, Huang RS, Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits. AM J HUM GENET 2012;90 (6):1046-1063 [PubMed]
  • Gamazon ER, Badner JA, Cheng L, Zhang C, Zhang D, Cox NJ, Gershon ES, Kelsoe JR, Greenwood TA, Nievergelt CM, Chen C, McKinney R, Shilling PD, Schork NJ, Smith EN, Bloss CS, Nurnberger JI, Edenberg HJ, Foroud T, Koller DL, Scheftner WA, Coryell W, Rice J, Lawson WB, Nwulia EA, Hipolito M, Byerley W, McMahon FJ, Schulze TG, Berrettini WH, Potash JB, Zandi PP, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Liu C, Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. MOL PSYCHIATR 2013;18 (3):340-346 [PubMed]
  • Gamazon ER, Pinto N, Konkashbaev A, Im HK, Diskin SJ, London WB, Maris JM, Dolan ME, Cox NJ, Cohn SL, Trans-population Analysis of Genetic Mechanisms of Ethnic Disparities in Neuroblastoma Survival. JNCI-J NATL CANCER I 2013;105 (4):302-309 [PubMed]
All Publications
Curriculum Vitae

Eric R. Gamazon, M.S., Ph.D.


Academic Medical Center, University of Amsterdam (Psychiatrie: Volwassenenpsychiatrie; Klinische Epidemiologie, Biostatistiek en Bioinformatica), Amsterdam, The Netherlands


Consortia and Research Groups

  1. Genotype-Tissue Expression (GTEx) Consortium (2012 – Present).
  2. Type 2 Diabetes (T2D) Genetic Exploration by Next-generation Sequencing in Ethnic Samples (T2D-GENES) Consortium (2012 – present).
  3. International Warfarin Pharmacogenetics Consortium – Genome Wide Association Studies (IWPC-GWAS).
  4. Pharmacogenomics of Anticancer Agents Research (PAAR) Group: Genetics and Informatics Using Statistics (GENIUS) Core

Select Activities

  1. Gene-based method paper (Gamazon et al, Nature Genetics, 2015) selected one of the top three papers in the category of “Methods for Genetic Discovery” in the AMIA “Translational Bioinformatics 2016: The Year in Review“.
  2. Robert C. Elston Award Best Paper Award from the International Genetic Epidemiology Society.
  3. Co-chair GWAS Working Subgroup of GTEx Consortium. Phase 1 paper selected to be on the front cover of Science.
  4. Research on the gene IRX3 and obesity (Nature, 2014) selected as one of top advances in functional genomics and translational biology for 2014 (American Heart Association Functional Genomics and Translational Biology Council).
  5. Alice W. Chandler Recognition 2014 honoree, The University of Chicago
  6. Gamazon et al, Journal of the National Cancer Institute (2013) selected in the annual assessment (“Clinical Cancer Advances 2013”) by the American Society of Clinical Oncology (ASCO) as one of “the advances in cancer research with the greatest potential to improve patient care and quality of life”.
  7. Genotype-Tissue Expression (GTEx) Project Community Meeting at the Broad Institute of MIT and Harvard (Cambridge, MA, 2013): “GTEx: Expanding on Genome-Wide Association Studies”.
  8. PGRN Statistical Analysis Resource (P-STAR) Workshop (Austin, TX, 2012): “The Convergence of Functional Genomics, Heritability Estimation and Polygenic Modeling”.
  9. Research featured in Genome Technology April 2012 issue highlighting advances in cancer research from previous year.
  10. Affymetrix PanAsia Genome-wide Association Studies (Shanghai, China, 2011): “SCAN: Extending Genome-wide Association Studies”
  11. Platform presentation at American Society of Human Genetics (ASHG) Annual Meeting (Washington D.C., 2010). “Mapping genes near Type 2 Diabetes (T2D) Associated Loci as Expression Quantitative Trait Loci (eQTL) in Human Adipose and Muscle”