| Автор | Mills, Ryan E. |
| Автор | Walter, Klaudia |
| Автор | Stewart, Chip |
| Автор | Handsaker, Robert E. |
| Автор | Chen, Ken |
| Автор | Alkan, Can |
| Автор | Abyzov, Alexej |
| Автор | Yoon, Seungtai Chris |
| Автор | Ye, Kai |
| Автор | Cheetham, R. Keira |
| Автор | Chinwalla, Asif |
| Автор | Conrad, Donald F. |
| Автор | Fu, Yutao |
| Автор | Grubert, Fabian |
| Автор | Hajirasouliha, Iman |
| Автор | Hormozdiari, Fereydoun |
| Автор | Iakoucheva, Lilia M. |
| Автор | Iqbal, Zamin |
| Автор | Kang, Shuli |
| Автор | Kidd, Jeffrey M. |
| Автор | Konkel, Miriam K. |
| Автор | Korn, Joshua |
| Автор | Khurana, Ekta |
| Автор | Kural, Deniz |
| Автор | Lam, Hugo Y. K. |
| Автор | Leng, Jing |
| Автор | Li, Ruiqiang |
| Автор | Li, Yingrui |
| Автор | Lin, Chang-Yun |
| Автор | Luo, Ruibang |
| Автор | Mu, Xinmeng Jasmine |
| Автор | Nemesh, James |
| Автор | Peckham, Heather E. |
| Автор | Rausch, Tobias |
| Автор | Scally, Aylwyn |
| Автор | Shi, Xinghua |
| Автор | Stromberg, Michael P. |
| Автор | Stütz, Adrian M. |
| Автор | Urban, Alexander Eckehart |
| Автор | Walker, Jerilyn A. |
| Автор | Wu, Jiantao |
| Автор | Zhang, Yujun |
| Автор | Zhang, Zhengdong D. |
| Автор | Batzer, Mark A. |
| Автор | Ding, Li |
| Автор | Marth, Gabor T. |
| Автор | McVean, Gil |
| Автор | Sebat, Jonathan |
| Автор | Snyder, Michael |
| Автор | Wang, Jun |
| Автор | Ye, Kenny |
| Автор | Eichler, Evan E. |
| Автор | Gerstein, Mark B. |
| Автор | Hurles, Matthew E. |
| Автор | Lee, Charles |
| Автор | McCarroll, Steven A. |
| Автор | Korbel, Jan O. |
| Автор | 1000 Genomes Project |
| Дата выпуска | 2011 |
| dc.description | Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution architecture of most SVs remains unknown. We constructed a map of unbalanced SVs (that is, copy number variants) based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations. Our map encompassed 22,025 deletions and 6,000 additional SVs, including insertions and tandem duplications. Most SVs (53%) were mapped to nucleotide resolution, which facilitated analysing their origin and functional impact. We examined numerous whole and partial gene deletions with a genotyping approach and observed a depletion of gene disruptions amongst high frequency deletions. Furthermore, we observed differences in the size spectra of SVs originating from distinct formation mechanisms, and constructed a map of SV hotspots formed by common mechanisms. Our analytical framework and SV map serves as a resource for sequencing-based association studies. |
| Формат | application.pdf |
| Издатель | Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. |
| Копирайт | Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. |
| Название | Mapping copy number variation by population-scale genome sequencing |
| Тип | ARTICLE |
| DOI | 10.1038/nature09708 |
| Print ISSN | 0028-0836 |
| Журнал | Nature |
| Том | 470 |
| Первая страница | 59 |
| Последняя страница | 65 |
| Аффилиация | Mills, Ryan E.; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts, USA |
| Аффилиация | Walter, Klaudia; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK |
| Аффилиация | Stewart, Chip; Department of Biology, Boston College, Boston, Massachusetts, USA |
| Аффилиация | Handsaker, Robert E.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA |
| Аффилиация | Chen, Ken; The Genome Center at Washington University, St. Louis, Missouri, USA |
| Аффилиация | Alkan, Can; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA |
| Аффилиация | Abyzov, Alexej; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Yoon, Seungtai Chris; Seaver Autism Center and Department of Psychiatry, Mount Sinai School of Medicine, New York, New York, USA |
| Аффилиация | Ye, Kai; Departments of Molecular Epidemiology, Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands |
| Аффилиация | Cheetham, R. Keira; Illumina Cambridge Ltd, Chesterford Research Park, Little Chesterford, Saffron Walden CB10 1XL, UK |
| Аффилиация | Chinwalla, Asif; The Genome Center at Washington University, St. Louis, Missouri, USA |
| Аффилиация | Conrad, Donald F.; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK |
| Аффилиация | Fu, Yutao; Life Technologies, Beverly, Massachusetts, USA |
| Аффилиация | Grubert, Fabian; Department of Genetics, Stanford University, Stanford, California, USA |
| Аффилиация | Hajirasouliha, Iman; School of Computing Science, Simon Fraser University, Burnaby, British Columbia, Canada |
| Аффилиация | Hormozdiari, Fereydoun; School of Computing Science, Simon Fraser University, Burnaby, British Columbia, Canada |
| Аффилиация | Iakoucheva, Lilia M.; Department of Psychiatry, Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA |
| Аффилиация | Iqbal, Zamin; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK |
| Аффилиация | Kang, Shuli; Department of Psychiatry, Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA |
| Аффилиация | Kidd, Jeffrey M.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA |
| Аффилиация | Konkel, Miriam K.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana, USA |
| Аффилиация | Korn, Joshua; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA |
| Аффилиация | Khurana, Ekta; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA; Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Kural, Deniz; Department of Biology, Boston College, Boston, Massachusetts, USA |
| Аффилиация | Lam, Hugo Y. K.; Department of Genetics, Stanford University, Stanford, California, USA |
| Аффилиация | Leng, Jing; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Li, Ruiqiang; BGI-Shenzhen, Shenzhen 518083, China |
| Аффилиация | Li, Yingrui; BGI-Shenzhen, Shenzhen 518083, China |
| Аффилиация | Lin, Chang-Yun; Albert Einstein College of Medicine, Bronx, New York, USA |
| Аффилиация | Luo, Ruibang; BGI-Shenzhen, Shenzhen 518083, China |
| Аффилиация | Mu, Xinmeng Jasmine; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Nemesh, James; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA |
| Аффилиация | Peckham, Heather E.; Life Technologies, Beverly, Massachusetts, USA |
| Аффилиация | Rausch, Tobias; Genome Biology Research Unit, European Molecular Biology Laboratory, Heidelberg, Germany |
| Аффилиация | Scally, Aylwyn; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK |
| Аффилиация | Shi, Xinghua; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts, USA |
| Аффилиация | Stromberg, Michael P.; Department of Biology, Boston College, Boston, Massachusetts, USA |
| Аффилиация | Stütz, Adrian M.; Genome Biology Research Unit, European Molecular Biology Laboratory, Heidelberg, Germany |
| Аффилиация | Urban, Alexander Eckehart; Department of Genetics, Stanford University, Stanford, California, USA; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA |
| Аффилиация | Walker, Jerilyn A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana, USA |
| Аффилиация | Wu, Jiantao; Department of Biology, Boston College, Boston, Massachusetts, USA |
| Аффилиация | Zhang, Yujun; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK |
| Аффилиация | Zhang, Zhengdong D.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Batzer, Mark A.; Department of Biological Sciences, Louisiana State University, Baton Rouge, Louisiana, USA |
| Аффилиация | Ding, Li; The Genome Center at Washington University, St. Louis, Missouri, USA; Department of Genetics, Washington University, St Louis, Missouri, USA |
| Аффилиация | Marth, Gabor T.; Department of Biology, Boston College, Boston, Massachusetts, USA |
| Аффилиация | McVean, Gil; Department of Statistics, University of Oxford, OX3 7BN, UK |
| Аффилиация | Sebat, Jonathan; Department of Psychiatry, Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA |
| Аффилиация | Snyder, Michael; Department of Genetics, Stanford University, Stanford, California, USA |
| Аффилиация | Wang, Jun; BGI-Shenzhen, Shenzhen 518083, China; Department of Biology, University of Copenhagen, Copenhagen, Denmark |
| Аффилиация | Ye, Kenny; Albert Einstein College of Medicine, Bronx, New York, USA |
| Аффилиация | Eichler, Evan E.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA; Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA |
| Аффилиация | Gerstein, Mark B.; Program in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA; Molecular Biophysics and Biochemistry Department, Yale University, New Haven, Connecticut, USA; Department of Computer Science, Yale University, New Haven, Connecticut, USA |
| Аффилиация | Hurles, Matthew E.; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK |
| Аффилиация | Lee, Charles; Department of Pathology, Brigham and Womenâ s Hospital and Harvard Medical School, Boston, Massachusetts, USA |
| Аффилиация | McCarroll, Steven A.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA |
| Аффилиация | Korbel, Jan O.; Genome Biology Research Unit, European Molecular Biology Laboratory, Heidelberg, Germany |
| Выпуск | 7332 |
