About My Research
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.
Education
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
Honors
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
- Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nat Commun. 2024 Jan 09; 15(1):396.
- TIE1 and TEK signalling, intraocular pressure, and primary open-angle glaucoma: a Mendelian randomization study. J Transl Med. 2023 11 24; 21(1):847.
- Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function. Science. 2022 05 13; 376(6594):eabl4290.
- Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data. Ophthalmology. 2022 06; 129(6):694-707.
- Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature. Circulation. 2022 01 11; 145(2):134-150.
- Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy. Am J Ophthalmol. 2022 01; 233:111-123.
- Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank. Ophthalmology. 2021 09; 128(9):1300-1311.
- Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 02 24; 12(1):1258.
- Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. Genome Biol. 2021 01 26; 22(1):49.
- Cell type-specific genetic regulation of gene expression across human tissues. Science. 2020 09 11; 369(6509).
- The impact of sex on gene expression across human tissues. Science. 2020 09 11; 369(6509).
- Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456. Diabetes. 2020 Jun; 69(6):1306.
- RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. Science. 2019 Jun 07; 364(6444).
- Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes. 2019 02; 68(2):441-456.
- Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nat Genet. 2018 07; 50(7):956-967.
- Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. Nat Genet. 2017 Sep; 49(9):1392-1397.
- Widespread Allelic Heterogeneity in Complex Traits. Am J Hum Genet. 2017 May 04; 100(5):789-802.
- Colocalization of GWAS and eQTL Signals Detects Target Genes. Am J Hum Genet. 2016 Dec 01; 99(6):1245-1260.
- ForestPMPlot: A Flexible Tool for Visualizing Heterogeneity Between Studies in Meta-analysis. G3 (Bethesda). 2016 07 07; 6(7):1793-8.
- A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. Biopreserv Biobank. 2015 Oct; 13(5):311-9.
- Systems Genetics Analysis of Genome-Wide Association Study Reveals Novel Associations Between Key Biological Processes and Coronary Artery Disease. Arterioscler Thromb Vasc Biol. 2015 Jul; 35(7):1712-22.
- Human genomics. The human transcriptome across tissues and individuals. Science. 2015 May 08; 348(6235):660-5.
- Pathways targeted by antidiabetes drugs are enriched for multiple genes associated with type 2 diabetes risk. Diabetes. 2015 Apr; 64(4):1470-83.
- Integrative genomics reveals novel molecular pathways and gene networks for coronary artery disease. PLoS Genet. 2014 Jul; 10(7):e1004502.
- Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat Genet. 2014 Apr; 46(4):357-63.
- Identification of novel type 2 diabetes candidate genes involved in the crosstalk between the mitochondrial and the insulin signaling systems. PLoS Genet. 2012; 8(12):e1003046.
- Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A. 2012 Aug 28; 109(35):14035-40.
- Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet. 2012 Sep; 44(9):981-90.
- The Lin28/let-7 axis regulates glucose metabolism. Cell. 2011 Sep 30; 147(1):81-94.
- 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).
- Heterothallism in Saccharomyces cerevisiae isolates from nature: effect of HO locus on the mode of reproduction. Mol Ecol. 2010 Jan; 19(1):121-31.
- High-resolution mutation mapping reveals parallel experimental evolution in yeast. PLoS Biol. 2006 Jul; 4(8):e256.
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