Human Disease Genomics Research Group

Human Disease Genomics Research Group
The research of the Human Disease Genomics group at Estonian Genome Center is focused on understanding the role of genetic variation in health and disease. The group develops novel computational tools and analytical methods, investigates a wide range of health conditions and behaviors, and aims to better understand ethical and practical challenges in implementing genomics into general healthcare. The Human Disease Genomics group is an active member of many international genetic association consortia and has contributed to the discovery of hundreds of genetic risk factors or modifiers for many health outcomes. As multi-phenotype analysis of several correlated traits have been shown to have larger statistical power compared to single phenotype analysis, we are also working on software tools for multi phenotype analysis, which uses inverted regression framework, where genotype is considered as outcome and phenotypes are used as independent variables, and also its meta-analysis tool, which combines data considering inter-phenotype covariance matrices.
Obesity is one of the most common modifiable disease risk factor and it has became a world-wide epidemic and one of the largest burdens to medical systems. Our main research questions are mostly concerning the genetics of obesity and obesity related cardio-metabolic diseases, including coronary heart disease, type 2 diabetes, myocardial infarction, hypertension etc. We are collaborating in several international consortia, including CARDIOGRAM, DIAGRAM, MAGIC to identify additional genetic variants associated with these diseases, as well as working on the disease risk prediction algorithms based on the generated data, which can be used in genomic counseling and disease prevention programs.

Research and teaching
Andres Metspalu, MD; PhD (group leader)
Krista Fischer, PhD, Senior Researcher
Lili Milani, PhD, Senior Researcher
Reedik Mägi, PhD, Senior Researcher
Andrew Morris, PhD, Visiting Professor
Paula-Ann Kivistik, PhD, Head of Sequencing
Nele Taba, MSc, Specialist

PhD Students
Mart Kals, MSc Kristi Läll, MSc
Silva Kasela, MSc Natalia Perjakova,
MSc Viktoria Kukuskina,
MSc Tõnis Tasa, MSc
Maarja Lepamets, MSc
Mario Mitt, MSc
Kristi Krebs, MSc
Kelli Grand, MSc
Riin Tamm, MSc
Anu Tammiste, MSc

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