Seminar of the Centre of Excellence for Genomics and Translational Medicine by Dr. Tõnu Esko, May 18th 2017 15:00
Seminar of the Centre of Excellence for Genomics and Translational Medicine by Dr. Tõnu Esko: "Functional genomics: from statistical association to causal biology"
May 18th at 15:00 at Biomedicim (Ravila 19, Tartu)
Abstract: Recent years have seen a dramatic increase in numbers of DNA sequence variants robustly associated with a human disease or condition – from less than 10 in year 2005 to more than 20,000 by year 2017. For several conditions, like schizophrenia, or traits, such as cognitive function, where no genetic risk factors were known 5 years ago, respective counts are now 150+ and 800+ robust genetic associations. Due to the nature of human DNA structure, genetic profiling techniques and statistical models, it is challenging to pinpoint causal mutations and molecular pathways, tissue of action and potential treatment strategies from the genomic loci highlighted in a Genome-Wide Association Study. I will discuss bioinformatic techniques and functional genomics approaches currently used to gain molecular insight to disease pathology. Talk will draw examples from studies of normal cognitive function, blood cell phenotypes, human stature and gene expression patterns.