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Title: Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes
Authors: Hillmer, A.M.
Yao, F.
Inaki, K.
Lee, W.H.
Ariyaratne, P.N.
Teo, A.S.M.
Woo, X.Y.
Zhang, Z.
Zhao, H.
Ukil, L.
Chen, J.P.
Zhu, F.
So, J.B.Y.
Salto-Tellez, M. 
Poh, W.T.
Zawack, K.F.B.
Nagarajan, N.
Gao, S.
Li, G.
Kumar, V.
Lim, H.P.J.
Sia, Y.Y.
Chan, C.S.
Leong, S.T.
Neo, S.C.
Choi, P.S.D.
Thoreau, H.
Tan, P.B.O. 
Shahab, A.
Ruan, X.
Bergh, J.
Hall, P.
Cacheux-Rataboul, V.
Wei, C.-L.
Yeoh, K.G.
Sung, W.-K.
Bourque, G.
Liu, E.T.
Ruan, Y. 
Issue Date: May-2011
Citation: Hillmer, A.M., Yao, F., Inaki, K., Lee, W.H., Ariyaratne, P.N., Teo, A.S.M., Woo, X.Y., Zhang, Z., Zhao, H., Ukil, L., Chen, J.P., Zhu, F., So, J.B.Y., Salto-Tellez, M., Poh, W.T., Zawack, K.F.B., Nagarajan, N., Gao, S., Li, G., Kumar, V., Lim, H.P.J., Sia, Y.Y., Chan, C.S., Leong, S.T., Neo, S.C., Choi, P.S.D., Thoreau, H., Tan, P.B.O., Shahab, A., Ruan, X., Bergh, J., Hall, P., Cacheux-Rataboul, V., Wei, C.-L., Yeoh, K.G., Sung, W.-K., Bourque, G., Liu, E.T., Ruan, Y. (2011-05). Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes. Genome Research 21 (5) : 665-675. ScholarBank@NUS Repository.
Abstract: Somatic genome rearrangements are thought to play important roles in cancer development. We optimized a long-span paired-end-tag (PET) sequencing approach using 10-Kb genomic DNA inserts to study human genome structural variations (SVs). The use of a 10-Kb insert size allows the identification of breakpoints within repetitive or homology-containing regions of a few kilobases in size and results in a higher physical coverage compared with small insert libraries with the same sequencing effort. We have applied this approach to comprehensively characterize the SVs of 15 cancer and two noncancer genomes and used a filtering approach to strongly enrich for somatic SVs in the cancer genomes. Our analyses revealed that most inversions, deletions, and insertions are germ-line SVs, whereas tandem duplications, unpaired inversions, interchromosomal translocations, and complex rearrangements are over-represented among somatic rearrangements in cancer genomes. We demonstrate that the quantitative and connective nature of DNA-PET data is precise in delineating the genealogy of complex rearrangement events, we observe signatures that are compatible with breakage-fusion-bridge cycles, and we discover that large duplications are among the initial rearrangements that trigger genome instability for extensive amplification in epithelial cancers. © 2011 by Cold Spring Harbor Laboratory Press.
Source Title: Genome Research
ISSN: 10889051
DOI: 10.1101/gr.113555.110
Appears in Collections:Staff Publications

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