Functional Consequences of Structural Variation in the Genomes

Keystone Symposia, Silverthorne CO

Investigators

Abstract

DESCRIPTION (provided by applicant): This proposal requests support for a Keystone Symposia meeting entitled Functional Consequences of Structural Variation in the Genomes, organized by Evan E. Eichler and Matthew Hurles, which will be held in Steamboat Springs, Colorado from January 7 - 12, 2011. Sequencing of genomes has led to the discovery of a spectrum of both small-scale and large-scale genetic variation among individuals. Changes in copy-number and genome structural variation are common in most mammalian species and affect a wide range of phenotypic traits. The goal of this meeting will be to explore the relative impact of structural variation on common and rare human genetic diseases;to discuss our understanding of "normal" patterns of structural variation as revealed by sequencing of many human genomes using new sequencing technologies, and the origin of this variation;to explore the extent of intraspecific variation in other organisms and the importance of this variation in phenotypic traits;and to discuss the adaptive importance of this form of variation during the evolution of mammalian species. This meeting will bring together genome technology development with investigators who are working with patients and those characterizing phenotypic traits among different organisms. State-of-the-art research presentations will provide an opportunity for trainees to interact with experts in diverse disciplines. The central focus on genome structural variation as opposed to single nucleotide differences will highlight challenges and solutions to systematically characterizing such genetic variation. A critical mass of investigators from diverse backgrounds - including human disease, population genetics, cancer, genome sequencing, model organisms and evolution - will precipitate novel insights and accelerate the field by allowing cross fertilization among groups which interact infrequently. PUBLIC HEALTH RELEVANCE: The Keystone Symposia meeting on Functional Consequences of Structural Variation in the Genomes will provide the most cutting-edge and state-of-the-art approaches to characterizing large-scale variation in both normal human and disease genomes. Relative to single-nucleotide variations, the identification of larger-scale variations in the human genome and our understanding of their biological consequences are less mature. The meeting will also highlight the consequences of this variation in terms of evolution and adaptation.