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Scientific Lectures //

Human Genetic Diversity & Polygenic Effects on Brain Morphology

Nicholas J. Schork, Ph.D. - Director of Bioinformatics and Biostatistics,Scripps Translational Science Institute; Director of Research, Scripps Genomic Medicine; Professor,Department of Molecular and Experimental Medicine, The Scripps Research Institute.

Presented:  November 15, 2012

ABSTRACT: The interpretation of genome sequence data obtained on a single individual or a set of individuals is not trivial, especially with respect to disease susceptibility, as it requires an understanding of which variants in the genome may be contributing to phenotypic expression and which are neutral. In this talk I discuss issues surrounding the characterization and use of variant annotations in making claims about disease causality and predisposition from whole genome perspectives. I consider applications involving global differences in the functional content of human genomes, the importance of phase information in assessing variant pathogenicity, and methods for associating genetic background with disease susceptibility and general phenotypic expression in the context of brain morphology.

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