Mapping copy number variation by population-scale genome sequencing.
Mapping copy number variation by population-scale genome sequencing.
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通过种群规模的基因组测序来映射拷贝数变化。
DOI：
10.1038/nature09708
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发表时间：
2011-02-03
期刊：
影响因子：
64.8
通讯作者：
Korbel, Jan O.
中科院分区：
文献类型：
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作者：
Mills, Ryan E.;Walter, Klaudia;Stewart, Chip;Handsaker, Robert E.;Chen, Ken;Alkan, Can;Abyzov, Alexej;Yoon, Seungtai Chris;Ye, Kai;Cheetham, R. Keira;Chinwalla, Asif;Conrad, Donald F.;Fu, Yutao;Grubert, Fabian;Hajirasouliha, Iman;Hormozdiari, Fereydoun;Iakoucheva, Lilia M.;Iqbal, Zamin;Kang, Shuli;Kidd, Jeffrey M.;Konkel, Miriam K.;Korn, Joshua;Khurana, Ekta;Kural, Deniz;Lam, Hugo Y. K.;Leng, Jing;Li, Ruiqiang;Li, Yingrui;Lin, Chang-Yun;Luo, Ruibang;Mu, Xinmeng Jasmine;Nemesh, James;Peckham, Heather E.;Rausch, Tobias;Scally, Aylwyn;Shi, Xinghua;Stromberg, Michael P.;Stuetz, Adrian M.;Urban, Alexander Eckehart;Walker, Jerilyn A.;Wu, Jiantao;Zhang, Yujun;Zhang, Zhengdong D.;Batzer, Mark A.;Ding, Li;Marth, Gabor T.;McVean, Gil;Sebat, Jonathan;Snyder, Michael;Wang, Jun;Ye, Kenny;Eichler, Evan E.;Gerstein, Mark B.;Hurles, Matthew E.;Lee, Charles;McCarroll, Steven A.;Korbel, Jan O.
基因组结构变异 (SV) 在人类中非常丰富，在范围、起源和功能影响方面与其他变异类别不同。尽管 SV 表征取得了进展，但大多数 SV 的核苷酸分辨率结构仍然未知。我们根据 185 个人类基因组的全基因组 DNA 测序数据构建了不平衡 SV（即拷贝数变异）图谱，将互补 SV 发现方法的证据与广泛的实验验证相结合。我们的图谱包含 22,025 个缺失和 6,000 个额外的 SV，包括插入和串联重复。大多数 SV（53%）被映射到核苷酸分辨率，这有助于分析它们的起源和功能影响。我们用基因分型方法检查了许多完整和部分基因缺失，并观察到高频缺失中基因破坏的减少。此外，我们观察到源自不同形成机制的SV尺寸谱的差异，并构建了由共同机制形成的SV热点图。我们的分析框架和 SV 图作为基于测序的关联研究的资源。
Genomic structural variants (SVs) are abundant in humans, differing from other variation classes 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 (i.e., 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 analyzing 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 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.
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影响因子：
30.8
作者：
Alkan, Can;Kidd, Jeffrey M.;Marques-Bonet, Tomas;Aksay, Gozde;Antonacci, Francesca;Hormozdiari, Fereydoun;Kitzman, Jacob O.;Baker, Carl;Malig, Maika;Mutlu, Onur;Sahinalp, S. Cenk;Gibbs, Richard A.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
影响因子：
30.8
作者：
McCarthy, Shane E.;Makarov, Vladimir;Kirov, George;Addington, Anjene M.;McClellan, Jon;Yoon, Seungtai;Perkins, Diana O.;Dickel, Diane E.;Kusenda, Mary;Krastoshevsky, Olga;Krause, Verena;Kumar, Ravinesh A.;Grozeva, Detelina;Malhotra, Dheeraj;Walsh, Tom;Zackai, Elaine H.;Kaplan, Paige;Ganesh, Jaya;Krantz, Ian D.;Spinner, Nancy B.;Roccanova, Patricia;Bhandari, Abhishek;Pavon, Kevin;Lakshmi, B.;Leotta, Anthony;Kendall, Jude;Lee, Yoon-ha;Vacic, Vladimir;Gary, Sydney;Iakoucheva, Lilia M.;Crow, Timothy J.;Christian, Susan L.;Lieberman, Jeffrey A.;Stroup, T. Scott;Lehtimaki, Terho;Puura, Kaija;Haldeman-Englert, Chad;Pearl, Justin;Goodell, Meredith;Willour, Virginia L.;DeRosse, Pamela;Steele, Jo;Kassem, Layla;Wolff, Jessica;Chitkara, Nisha;McMahon, Francis J.;Malhotra, Anil K.;Potash, James B.;Schulze, Thomas G.;Noethen, Markus M.;Cichon, Sven;Rietschel, Marcella;Leibenluft, Ellen;Kustanovich, Vlad;Lajonchere, Clara M.;Sutcliffe, James S.;Skuse, David;Gill, Michael;Gallagher, Louise;Mendell, Nancy R.;Craddock, Nick;Owen, Michael J.;O'Donovan, Michael C.;Shaikh, Tamim H.;Susser, Ezra;DeLisi, Lynn E.;Sullivan, Patrick F.;Deutsch, Curtis K.;Rapoport, Judith;Levy, Deborah L.;King, Mary-Claire;Sebat, Jonathan
通讯作者：
Sebat, Jonathan
影响因子：
30.8
作者：
Iafrate, AJ;Feuk, L;Lee, C
通讯作者：
Lee, C
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE
影响因子：
64.8
作者：
通讯作者：
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