Ayellet V. Segrè, Ph.D.

Massachusetts Eye and Ear
Genetic Biostatistician

Research Summary

Dr. Ayellet Segrè develops computational and statistical genomics approaches to identify variants, genes and pathways associated with complex diseases, with applications to common eye diseases, including diabetic retinopathy, glaucoma and age-related macular degeneration. She has previously developed a method called MAGENTA that applies gene-set enrichment analysis to genome-wide association studies (GWAS) to identify biological processes enriched for common variant associations with complex diseases, and has extended this approach to study the role of regulation in disease. Her current work includes integration of whole genome sequencing studies with functional genomics and epigenetics data from human cells and tissues. In addition to identifying disease-associated variants and genes, Dr. Segrè is interested in using human genetics studies to predict personalized response to treatment and side-effects of drugs.

Selected Publications

For a full publication list, please see her CV.

GTEx Consortium*. Genetic effects on gene expression across human tissues. Nature. 2017 Oct 12;550(7675):204-213. *Segrè AV is one of twelve lead analysts and first co-authors.

GTEx Consortium*. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science. 2015 May 8;348(6235):648-60. *Segrè AV is a member of the GTEx Analysis Working Group.

Hormozdiari F, van de Bunt M, Segrè AV, Li X, Joo JWJ, Bilow M, Sul JH, Sankararaman S, Pasaniuc B, Eskin E. Colocalization of GWAS and eQTL Signals Detects Target Genes. Am J Hum Genet. 2016 Dec 1;99(6):1245-1260.

Segrè AV, Wei N; DIAGRAM Consortium; MAGIC Investigators, Altshuler D, Florez JC. Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes. 2015 Apr;64(4):1470-83.

Segrè AV; DIAGRAM Consortium; MAGIC investigators, Groop L, Mootha VK, Daly MJ, Altshuler D. Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet. 2010 Aug 12;6(8). pii: e1001058. 

View a complete list of publications on pubmed.gov or Google Scholar>>



1998: BSc, magna cum laude, Faculty of Life Sciences, Hebrew University of Jerusalem, Israel

2001: MSc, Cancer Research, Department of Molecular Cell Biology, Weizmann Institute of Science, Israel

2007: PhD, Genetics and Genomics, Department of Molecular and Cellular Biology, Harvard University

Postgraduate Training

2013: Postdoctoral Fellow, Program in Medical and Population Genetics, Broad Institute of Harvard and MIT


1998: Feinberg Graduate School Fellowship for MSc studies

2008: American Diabetes Association Mentor-Based Postdoctoral Fellowship

2011: Young Investigator Grant Award for Presenters at the American Diabetes Association 71st Scientific Sessions

2016: Broad Staff Scientist Travel Grant Award for American Society of Human Genetics meeting