Research group of functional genomics
Our research leverages diverse omics and electronic health record data modalities to study human disease predisposition, development, and progression trajectories. We aim to elucidate the genetic and molecular foundations of a broad spectrum of complex human diseases. To achieve this, we employ a variety of high-throughput computational and genetic epidemiology techniques to identify, validate, and annotate genetic disease associations, focusing on putatively causal variants and their downstream molecular mechanisms and consequences. We are also interested in the genetic architecture of molecular endophenotypes and the genetics of social and behavioural phenotypes. Additionally, we integrate experimental insights from animal models with human omics analyses to uncover the underlying mechanisms of disease, with a specific emphasis on the relationship between diseases and circadian rhythms.
Main areas of expertise: translational genomics, computational method development, genetics and genomics of human complex diseases
Contact: priit.palta@ut.ee CV
Projects and Funding
Led by Prof. Priit Palta, this project aims to develop a comprehensive catalogue of genetic effects on disease phenotypes, including ICD10 diagnostic, ATC drug, NOMESCO procedure, and LOINC lab value codes. So far, we have finished GWAS for 5,522 diseases, defined based on the ICD codes. We also performed sex-specific GWAS for 602 diseases and we continue with post-GWAS analyses to prioritise and interpret the results.
Led by Priit Palta, in collaboration with Kaur Alasoo, this project involves conducting a GWAS meta-analysis on 249 circulating metabolite traits from the Estonian Biobank and UK Biobank datasets, with a combined sample size of 619,372. This is the largest metabolite GWAS to date and will significantly aid GWAS interpretation and method development.
In 2024, we completed GWAS analyses for both biobanks and made the combined meta-analysis results publicly available here with the pre-print of our findings available here.
Led by research fellow Urmo Võsa, the project aims to comprehensively characterize the genetics of blood gene expression via highly powered consortium meta-analyses (https://www.eqtlgen.org). This year was pivotal, as we finalized all the cohort-level analyses and conducted genome-wide expression quantitative trait meta-analysis in 43,301 samples from 51 datasets, representing ~8x power increase compared to previous similar studies. The initial results were selected for oral presentation at the American Society of Human Genetics meeting, and currently, we are engaged with numerous interpretative analyses, as well as manuscript writing and collaborative sub-projects.
A European project led by the Utrecht University, the aim of this project is to develop tools and datasets that can be used to study exposome-health associations in cardiometabolic and pulmonary diseases. The exposome analysis of Estonian Biobank data is led by Jaanika Kronberg. We are analysing associations of external exposome with health outcomes and different omics layers in the Estonian Biobank and participate in meta-analyses with other partners of the project.
DISCERN is a European project coordinated by IARC. The aim of the project is to study the causes of three poorly understood cancers: renal, colorectal and pancreatic. The PI in the University of Tartu is Elin Org.
Jaanika Kronberg is leading exposome analyses in the University of Tartu in relation to cancer outcomes.
The EU project CVDLINK (led by research fellow Urmo Võsa) aims to improve the prediction of the risk for cardiovascular diseases via federated artificial intelligence methods. This project has reached the end of the first year: together with consortium partners, we conducted preparatory groundwork, which enable us to proceed with the project plan and analyses. We participated in the actions of four work packages and led one task, which coordinated the acquisition of ethical committee approvals for all participating hospitals and biobanks.
The EU project CLARITY (led by research fellow Erik Abner) aims to uncover the mechanisms linking respiratory syncytial virus (RSV) infections and genetic predisposition to chronic immune-mediated diseases (CIMDs), such as asthma. The project seeks to identify genetic and viral factors associated with severe bronchiolitis, understand molecular mechanisms driving virus-induced CIMDs, and develop prevention strategies and therapeutic targets.
The EU project WISDOM (led by research fellow Erik Abner) focuses on developing AI-mediated predictive models to enhance the diagnosis, treatment, and management of chronic autoimmune diseases, including multiple sclerosis, myasthenia gravis, and rheumatoid arthritis. Our role is to validate the AI models developed by partners using Estonian Biobank data and ensure their applicability across diverse populations.
Led by research fellow Teele Palumaa and funded by the Marie Skłodowska-Curie postdoctoral fellowship, explores the link between circadian rhythms and myopia, a condition expected to affect half the global population by 2050. The project combines animal model studies at Emory University with human genetics research at EstBB. Initial findings suggest that altering circadian rhythms influences myopic eye growth, involving GABA and cholinergic signalling in the retina.
A European partnership dedicated to advancing public health research through transnational collaboration will be led by Prof. Uku Vainik. This project aims to enhance NAD metabolism to prevent pathological brain aging. In EstBB, we will analyse the role of NAD in cognitive abilites.
Research fellow on Functional Genomics
Main areas of expertise: functional genomics, population genetics, eQTL studies, systems biology, bioinformatics
