Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome.

@article{citeulike:1715073, abstract = {Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify structural variants (SVs) ~3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans.}, address = {Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA.; European Molecular Biology Laboratory, 69117 Heidelberg, Germany.}, author = {Korbel, Jan O O. and Urban, Alexander Eckehart E. and Affourtit, Jason P P. and Godwin, Brian and Grubert, Fabian and Simons, Jan Fredrik F. and Kim, Philip M M. and Palejev, Dean and Carriero, Nicholas J J. and Du, Lei and Taillon, Bruce E E. and Chen, Zhoutao and Tanzer, Andrea and Saunders, A C Eugenia C. and Chi, Jianxiang and Yang, Fengtang and Carter, Nigel P P. and Hurles, Matthew E E. and Weissman, Sherman M M. and Harkins, Timothy T T. and Gerstein, Mark B B. and Egholm, Michael and Snyder, Michael }, citeulike-article-id = {1715073}, doi = {10.1126/science.1149504}, issn = {1095-9203}, journal = {Science}, keywords = {genomeevolution, populationgenetics}, month = {September}, posted-at = {2007-10-15 02:31:44}, priority = {2}, title = {Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome.}, url = {http://dx.doi.org/10.1126/science.1149504}, year = {2007} }

TY - JOUR ID - citeulike:1715073 L3 - citeulike-article-id:1715073 TI - Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome. JF - Science AD - Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA.; European Molecular Biology Laboratory, 69117 Heidelberg, Germany. SN - 1095-9203 N2 - Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications, insertions, inversions, and complex combinations of rearrangements. We introduce high-throughput and massive paired-end mapping (PEM), a large-scale genome sequencing method to identify structural variants (SVs) ~3 kb or larger that combines the rescue and capture of paired-ends of 3 kb fragments, massive 454 Sequencing, and a computational approach to map DNA reads onto a reference genome. PEM was used to map SVs in an African and putatively European individual and identified shared and divergent SVs relative to the reference genome. Overall, we fine-mapped more than 1000 SVs and documented that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function. The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans. KW - genomeevolution KW - populationgenetics AU - Korbel, Jan O AU - Urban, Alexander Eckehart AU - Affourtit, Jason P AU - Godwin, Brian AU - Grubert, Fabian AU - Simons, Jan Fredrik AU - Kim, Philip M AU - Palejev, Dean AU - Carriero, Nicholas J AU - Du, Lei AU - Taillon, Bruce E AU - Chen, Zhoutao AU - Tanzer, Andrea AU - Saunders, A C Eugenia AU - Chi, Jianxiang AU - Yang, Fengtang AU - Carter, Nigel P AU - Hurles, Matthew E AU - Weissman, Sherman M AU - Harkins, Timothy T AU - Gerstein, Mark B AU - Egholm, Michael AU - Snyder, Michael PY - 2007/09/27/ UR - http://dx.doi.org/10.1126/science.1149504 ER -