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Understanding the Function of Human Genome Variation

31st May 2016   -   4th June 2016
Uppsala, Sweden


One of the most complex problems in medical and evolutionary genomics is interpreting the function of the millions of variants the genome contains, most being rare and private to each individual or with consequences constrained to specific cells or tissues. The functional consequences of variation in coding regions are well established, but the majority of genetic variation resides in the noncoding portion of the human genome. In fact, 85% of genome-wide association signals fall outside coding regions, suggesting a large contribution from variants not well understood both to complex disease and to variation selected for different types of adaptation. The goal of this meeting is to bring together experts that may address important questions such as the function of noncoding variation, the connection between selection and disease, the diverse action of variants in different physiological and pathological scenarios, who develop and apply novel tools to connect genotype and phenotype both in disease and in an evolutionary context. By combining the diverse knowledge of many aspects of genomic analysis, we hope to bring out critical discussion and novel approaches to understanding human genome variation of crucial importance for the individualized genome analysis that precision medicine proposes. We are now entering the age of precision medicine with the capacity to analyze the genome of every subject, evaluating the functional consequences of variability and its interaction with the environment at different time-points in life. This is a new scenario for human biology and genetics in which fields need the convergence of different communities of scientists to address human complex disease, genome biology and evolutionary genomics in to a broader discussion on genome function. Our goal here is to bring together a very cross-disciplinary set of speakers that can address all aspects of genome variability and function, and thus to open everyone eyes to the interplay between selection and disease, as well as the likely importance of pleiotropic consequences of genetic variability based on genome function and evolution.    Topics include: Pleiotropy and Epistasis of Variants Involved in Disease, Finding the Causative Variant(s), Connection between Selection and Disease, Defining the Functional Elements in the Human Genome, Human History, Migration and Evolution, Selection and Population Genetics, Complex Disease and Genetic Variation, Structural Variation.   DEADLINES: Scholarship Deadline: Feb 1, 2016 Discounted Abstract Deadline: Feb 1, 2016 Abstract Deadline: Mar 1, 2016 Discounted Registration Deadline: Mar 31, 2016 

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