High-resolution mapping of copy-number alterations with massively parallel sequencing.
High-resolution mapping of copy-number alterations with massively parallel sequencing.
复制标题
DOI：
10.1038/nmeth.1276
复制
发表时间：
2009-01
期刊：
影响因子：
48
通讯作者：
Lander, Eric S.
中科院分区：
文献类型：
--
作者：
Chiang, Derek Y.;Getz, Gad;Jaffe, David B.;O'Kelly, Michael J. T.;Zhao, Xiaojun;Carter, Scott L.;Russ, Carsten;Nusbaum, Chad;Meyerson, Matthew;Lander, Eric S.
癌症是由关键基因的体细胞改变（包括点突变，拷贝数改变和结构重排）的一种强大方法。测序技术的最新进展表明，大规模平行测序可以为DNA微阵列提供可行的替代方法，以检测拷贝数的变化目前：（i）对特定大小的拷贝数变化的统计分析；成对的肿瘤和正常细胞系。定位断点（通常在约1 kb之内）的两倍更好的精度。
Cancer results from somatic alterations in key genes, including point mutations, copy number alterations and structural rearrangements. A powerful way to discover cancer-causing genes is to identify genomic regions that show recurrent copy-number alterations (gains and losses) in tumor genomes. Recent advances in sequencing technologies suggest that massively parallel sequencing may provide a feasible alternative to DNA microarrays for detecting copy-number alterations. Here, we present: (i) a statistical analysis of the power to detect copy-number alterations of a given size; (ii) SegSeq, an algorithm to identify chromosomal breakpoints using massively parallel sequence data; and (iii) analysis of experimental data from three matched pairs of tumor and normal cell lines. We show that a collection of ∼14 million aligned sequence reads from human cell lines has comparable power to detect events as the current generation of DNA microarrays and has over two-fold better precision for localizing breakpoints (typically, to within ∼1 kb).
登录
查看更多内容
DOI：
10.1073/pnas.0710052104
发表时间：
2007-12-11
影响因子：
11.1
作者：
Beroukhim, Rameen;Getz, Gad;Sellers, William R.
通讯作者：
Sellers, William R.
影响因子：
2.9
作者：
Morozova, Olena;Marra, Marco A.
通讯作者：
Marra, Marco A.
影响因子：
14.8
作者：
Leary, Rebecca J.;Cummins, Jordan;Velculescu, Victor E.
通讯作者：
Velculescu, Victor E.
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE
影响因子：
30.8
作者：
Campbell, Peter J.;Stephens, Philip J.;Pleasance, Erin D.;O'Meara, Sarah;Li, Heng;Santarius, Thomas;Stebbings, Lucy A.;Leroy, Catherine;Edkins, Sarah;Hardy, Claire;Teague, Jon W.;Menzies, Andrew;Goodhead, Ian;Turner, Daniel J.;Clee, Christopher M.;Quail, Michael A.;Cox, Antony;Brown, Clive;Durbin, Richard;Hurles, Matthew E.;Edwards, Paul A. W.;Bignell, Graham R.;Stratton, Michael R.;Futreal, P. Andrew
通讯作者：
Futreal, P. Andrew