Structural variation (SV), involving deletions, duplications, insertions and inversions of DNA segments, accounts for a large proportion of human genetic diversity. Comprehensive identification and analysis of these genetic variants will help us more fully elucidate the biology of their functional effects on human health and demography. Despite recent advances, the tools and data needed to comprehensively identify all types of SVs, genotype each variant, integrate and phase these variants remain lacking. Indeed, the data released from the early phases of the 1000 Genomes Project (1000GP) (1000 Genomes Project Consortium, 2010; 1000 Genomes Project Consortium, 2012) are biased primarily towards the detection of deletions within relatively unique regions of the genome. As a consortium, we propose to pool expertise from various research groups to provide an integrative analysis of SVs by combining rigorous computational algorithmic development with extensive experimental validation. The new algorithms we develop and the high confidence lists of SVs obtained will be rapidly made available as a public resource.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
Biotechnology Resource Cooperative Agreements (U41)
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National Human Genome Research Institute Initial Review Group (GNOM)
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Brooks, Lisa
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Jackson Laboratory
Bar Harbor
United States
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