Motivation: Recently, structural genomic variants have come to the forefront as a significant source of variation in the human population, but the identification of these variants in a large genome remains a challenge. The complete sequencing of a human individual is prohibitive at current costs, while current polymorphism detection technologies, such as SNP arrays, are not able to identify many of the large scale events. One of the most promising methods to detect such variants is the computational mapping of clone-end sequences to a reference genome. Results: Here, we present a probabilistic framework for the identification of structural variants using clone-end sequencing. Unlike previous methods, our approach does not rely on an a priori determined mapping of all reads to the reference. Instead, we build a framework for finding the most probable assignment of sequenced clones to potential structural variants based on the other clones. We compare our predictions with the structural variants identified in three previous studies. While there is a statistically significant correlation between the predictions, we also find a significant number of previously uncharacterized structural variants. Furthermore, we identify a number of putative cross-chromosomal events, primarily located proximally to the centromeres of the chromosomes.
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
KALLIONIEMI, A
KALLIONIEMI, OP
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WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
KALLIONIEMI, OP
SUDAR, D
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机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
SUDAR, D
RUTOVITZ, D
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机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
RUTOVITZ, D
GRAY, JW
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WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
GRAY, JW
WALDMAN, F
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WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
WALDMAN, F
PINKEL, D
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WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
机构:
Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USAUniv Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Kent, WJ
Sugnet, CW
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机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Sugnet, CW
Furey, TS
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Furey, TS
Roskin, KM
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Roskin, KM
Pringle, TH
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Pringle, TH
Zahler, AM
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Zahler, AM
Haussler, D
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
KALLIONIEMI, A
KALLIONIEMI, OP
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
KALLIONIEMI, OP
SUDAR, D
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
SUDAR, D
RUTOVITZ, D
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
RUTOVITZ, D
GRAY, JW
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
GRAY, JW
WALDMAN, F
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
WALDMAN, F
PINKEL, D
论文数: 0引用数: 0
h-index: 0
机构:
WESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLANDWESTERN GEN HOSP,MRC,HUMAN GENET UNIT,EDINBURGH EH4 2XU,MIDLOTHIAN,SCOTLAND
机构:
Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USAUniv Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Kent, WJ
Sugnet, CW
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Sugnet, CW
Furey, TS
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Furey, TS
Roskin, KM
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Roskin, KM
Pringle, TH
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Pringle, TH
Zahler, AM
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA
Zahler, AM
Haussler, D
论文数: 0引用数: 0
h-index: 0
机构:Univ Calif Santa Cruz, Dept Mol Cellular & Dev Biol, Santa Cruz, CA 95064 USA