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Use of Genome Variation in Understanding Complex Disease and Genome Regulation
Sponsored by APS Physiological Genomics Group

The complete sequence of several mammalian and non-mammalian genomes has revolutionized our ability to evaluate what is outside of the coding regions of genes. With the development of high-density whole-genome SNP chips we are just beginning to discover the importance of what we once thought of as “junk DNA”, or the 98% of the genome that does not code for proteins. Included in this symposium is how we are now looking to the whole genome to provide new paradigms regarding gene and genome regulation as well as disease association.  The goal of this symposium is to relate how genome variation across the coding and non-coding genome may contribute to disease, and how they will affect the practice of medicine.  Topics include the increasing utilization of high-density SNP platforms for whole-genome association studies, particularly important for common, complex disease; how the resequencing and high-density SNP typing of multiple ethnic groups has led to new information regarding positive and negative selection across human evolution; how studying genome variation both within as well as across species has led to the identification of copy number variation that may play a common role in complex disease; and the current and future roles of genome variation in personalized medicine.