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.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Biotechnology Resource Cooperative Agreements (U41)
Project #
1U41HG007497-01
Application #
8589933
Study Section
Ethical, Legal, Social Implications Review Committee (GNOM)
Program Officer
Brooks, Lisa
Project Start
2013-09-20
Project End
2016-08-31
Budget Start
2013-09-20
Budget End
2014-08-31
Support Year
1
Fiscal Year
2013
Total Cost
$2,766,009
Indirect Cost
$454,862
Name
Jackson Laboratory
Department
Type
DUNS #
042140483
City
Bar Harbor
State
ME
Country
United States
Zip Code
04609
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Carbone, Lucia; Harris, R Alan; Gnerre, Sante et al. (2014) Gibbon genome and the fast karyotype evolution of small apes. Nature 513:195-201
Fan, Xian; Zhou, Wanding; Chong, Zechen et al. (2014) Towards accurate characterization of clonal heterogeneity based on structural variation. BMC Bioinformatics 15:299