For complex traits, such as cardiometabolic disease, we increasingly recognize that the intergeneric space between protein coding genes (PCGs) contains highly ordered regulatory elements that control expression and function of PCGs and in themselves can be actively transcribed molecules. Indeed, over 50% of genome-wide association studies (GWAS) of complex traits identify single nucleotide polymorphisms (SNPs) that fall in intergenic regions and it is only recently becoming apparent that these regions are highly organized to perform specific functions. A next step in advancing precision medicine is careful and rigorous interrogation of the role of these regulatory elements, and their interplay with known PCGs and environmental factors, in the heritability of complex disease phenotypes. This tutorial focuses on analytic techniques and R tools designed to uncover these complex, and largely uncharacterized relationships.
Participants are expected to be familiar with basic statistical concepts and techniques at a level of an intermediate course in statistics.
Dr. Foulkes is a Professor of Statistics at Mount Holyoke College. She received her ScD in Biostatistics from Harvard School of Public Health in 2000, and has since made substantial contributions in the field of statistical genetics, including methodological and substantive research articles (over 50 publications) as well as open source educational materials (http://www.stat-gen.org/ and http://www.statsteachr.org/). She has led tutorials at the UseR! Conferences in Dortmund, Rennes and Warwick based on her widely acclaimed graduate level textbook, Applied Statistical Genetics with R (2009), Springer, New York (http://www.springer.com/us/book/9780387895536). Content of the proposed tutorial draws on a second edition of this book, currently underway, and Dr. Foulkes’ recent tutorial, A guide to genome-wide association analysis and post-analytic interrogation (2015), Statistics in Medicine, 34:3769–3792 (http://onlinelibrary.wiley.com/doi/10.1002/sim.6605/full).