HGM 2011 - Dubai, UAE
STEPHEN SCHERER - Abstract
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Stephen W. Scherer Title: Clinical Context of Copy Number and Structural Variation in the Human Genome |
During the past 5-years, copy number variation (CNV) and structural variation (SV) have emerged as highly prevalent forms of genomic variation, bridging the interval between long-recognised microscopic chromosomal alterations and single-nucleotide changes. These genomic differences among humans re?ect the dynamic nature of genomes, and account for both natural variations among us and variations that predispose to conditions of medical consequence. I will discuss CNV-SV in their historical and medical contexts, focusing on how these variations can be recognised, documented, characterised and interpreted. I will also discuss how they can cause disease or in?uence adaptation to an environment. Our recent work on autism spectrum and related neuropsychiatric disorders will also be described to illustrate salient characteristics and residual enigmas of this complex form of genetic variation. |
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Sheikh Hamdan Bin Rashid Al Maktoum |
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Human Genome Organisation |
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Centre for Arab Genomic Studies |
