HGM 2011 - Dubai, UAE

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Charles Lee

Title: Capturing Copy Number Variants (CNVs) from Whole-Genome Next Generation DNA Sequencing: Perspectives from the 1000 Genomes Project

Copy number variation (CNV) is abundant in humans, differing from other variation classes with respect to extent, origin, and functional impact. Despite progress in CNVcharacterization, the nucleotide resolution architecture of most CNVs remains unknown. We analyzed whole genome sequences of 185 individuals using complementary algorithmicapproachesaccompanied with extensive experimental validation. This has led to the construction of a population-scaleCNV map encompassing22,025deletions and 6,000additional structural variants including mobile element-based insertions and tandem duplications. The breakpoints of manyCNVs (53%) were mapped tonucleotide resolution, which facilitated subsequent analyses into theirorigins and functional impact.This dataset should serve as a resource for future sequencing-based association studies.

Sheikh Hamdan Bin Rashid Al Maktoum
Award for Medical Science

Human Genome Organisation

Centre for Arab Genomic Studies