Mapping and sequencing of structural variation from eight human genomes Export

@article{citeulike:2739858, abstract = {Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale—particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50\% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation—a standard for genotyping platforms and a prelude to future individual genome sequencing projects.}, author = {Kidd, Jeffrey M. and Cooper, Gregory M. and Donahue, William F. and Hayden, Hillary S. and Sampas, Nick and Graves, Tina and Hansen, Nancy and Teague, Brian and Alkan, Can and Antonacci, Francesca and Haugen, Eric and Zerr, Troy and Yamada, N. Alice and Tsang, Peter and Newman, Tera L. and Tuzun, Eray and Cheng, Ze and Ebling, Heather M. and Tusneem, Nadeem and David, Robert and Gillett, Will and Phelps, Karen A. and Weaver, Molly and Saranga, David and Brand, Adrianne and Tao, Wei and Gustafson, Erik and McKernan, Kevin and Chen, Lin and Malig, Maika and Smith, Joshua D. and Korn, Joshua M. and McCarroll, Steven A. and Altshuler, David A. and Peiffer, Daniel A. and Dorschner, Michael and Stamatoyannopoulos, John and Schwartz, David and Nickerson, Deborah A. and Mullikin, James C. and Wilson, Richard K. and Bruhn, Laurakay and Olson, Maynard V. and Kaul, Rajinder and Smith, Douglas R. and Eichler, Evan E.}, citeulike-article-id = {2739858}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/nature06862}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/nature06862}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/18451855}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=18451855}, day = {01}, doi = {10.1038/nature06862}, issn = {0028-0836}, journal = {Nature}, keywords = {genetics, human, sequencing, sv}, month = {May}, number = {7191}, pages = {56--64}, posted-at = {2008-10-08 14:52:52}, priority = {2}, publisher = {Nature Publishing Group}, title = {Mapping and sequencing of structural variation from eight human genomes}, url = {http://dx.doi.org/10.1038/nature06862}, volume = {453}, year = {2008} }

TY - JOUR ID - citeulike:2739858 L3 - citeulike-article-id:2739858 N2 - Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on an intermediate scale—particularly insertions, deletions and inversions affecting from a few thousand to a few million base pairs. We employed a clone-based method to interrogate this intermediate structural variation in eight individuals of diverse geographic ancestry. Our analysis provides a comprehensive overview of the normal pattern of structural variation present in these genomes, refining the location of 1,695 structural variants. We find that 50% were seen in more than one individual and that nearly half lay outside regions of the genome previously described as structurally variant. We discover 525 new insertion sequences that are not present in the human reference genome and show that many of these are variable in copy number between individuals. Complete sequencing of 261 structural variants reveals considerable locus complexity and provides insights into the different mutational processes that have shaped the human genome. These data provide the first high-resolution sequence map of human structural variation—a standard for genotyping platforms and a prelude to future individual genome sequencing projects. IS - 7191 JF - Nature SN - 0028-0836 EP - 64 TI - Mapping and sequencing of structural variation from eight human genomes PB - Nature Publishing Group VL - 453 SP - 56 KW - genetics KW - human KW - sequencing KW - sv AU - Kidd, Jeffrey AU - Cooper, Gregory AU - Donahue, William AU - Hayden, Hillary AU - Sampas, Nick AU - Graves, Tina AU - Hansen, Nancy AU - Teague, Brian AU - Alkan, Can AU - Antonacci, Francesca AU - Haugen, Eric AU - Zerr, Troy AU - Yamada, Alice AU - Tsang, Peter AU - Newman, Tera AU - Tuzun, Eray AU - Cheng, Ze AU - Ebling, Heather AU - Tusneem, Nadeem AU - David, Robert AU - Gillett, Will AU - Phelps, Karen AU - Weaver, Molly AU - Saranga, David AU - Brand, Adrianne AU - Tao, Wei AU - Gustafson, Erik AU - McKernan, Kevin AU - Chen, Lin AU - Malig, Maika AU - Smith, Joshua AU - Korn, Joshua AU - McCarroll, Steven AU - Altshuler, David AU - Peiffer, Daniel AU - Dorschner, Michael AU - Stamatoyannopoulos, John AU - Schwartz, David AU - Nickerson, Deborah AU - Mullikin, James AU - Wilson, Richard AU - Bruhn, Laurakay AU - Olson, Maynard AU - Kaul, Rajinder AU - Smith, Douglas AU - Eichler, Evan PY - 2008/05/01/ UR - http://dx.doi.org/10.1038/nature06862 ER -