Methods and strategies for analyzing copy number variation using DNA microarrays

被引：334

作者：

Carter, Nigel P. ^{[1
]}

机构：

[1] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

来源：

NATURE GENETICS | 2007年 / 39卷 / Suppl 7期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng2028

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

The association of DNA copy-number variation (CNV) with specific gene function and human disease has been long known, but the wide scope and prevalence of this form of variation has only recently been fully appreciated. The latest studies using microarray technology have demonstrated that as much as 12% of the human genome and thousands of genes are variable in copy number, and this diversity is likely to be responsible for a significant proportion of normal phenotypic variation. Current challenges involve developing methods not only for detecting and cataloging CNVs in human populations at increasingly higher resolution but also for determining the association of CNVs with biological function, recent human evolution, and common and complex human disease.

引用

页码：S16 / S21

页数：6

共 53 条

[1]

A haplotype map of the human genome [J].

Altshuler, D ;

Brooks, LD ;

Chakravarti, A ;

Collins, FS ;

Daly, MJ ;

Donnelly, P ;

Gibbs, RA ;

Belmont, JW ;

Boudreau, A ;

Leal, SM ;

Hardenbol, P ;

Pasternak, S ;

Wheeler, DA ;

Willis, TD ;

Yu, FL ;

Yang, HM ;

Zeng, CQ ;

Gao, Y ;

Hu, HR ;

Hu, WT ;

Li, CH ;

Lin, W ;

Liu, SQ ;

Pan, H ;

Tang, XL ;

Wang, J ;

Wang, W ;

Yu, J ;

Zhang, B ;

Zhang, QR ;

Zhao, HB ;

Zhao, H ;

Zhou, J ;

Gabriel, SB ;

Barry, R ;

Blumenstiel, B ;

Camargo, A ;

Defelice, M ;

Faggart, M ;

Goyette, M ;

Gupta, S ;

Moore, J ;

Nguyen, H ;

Onofrio, RC ;

Parkin, M ;

Roy, J ;

Stahl, E ;

Winchester, E ;

Ziaugra, L ;

Shen, Y .

NATURE, 2005, 437 (7063) :1299-1320

[2]

The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X [J].

Bentley, DR ;

Deloukas, P ;

Dunham, A ;

French, L ;

Gregory, SG ;

Humphray, SJ ;

Mungall, AJ ;

Ross, MT ;

Carter, NP ;

Dunham, I ;

Scott, CE ;

Ashcroft, KJ ;

Atkinson, AL ;

Aubin, K ;

Beare, DM ;

Bethel, G ;

Brady, N ;

Brook, JC ;

Burford, DC ;

Burrill, WD ;

Burrows, C ;

Butler, AP ;

Carder, C ;

Catanese, JJ ;

Clee, CM ;

Clegg, SM ;

Cobley, V ;

Coffey, AJ ;

Cole, CG ;

Collins, JE ;

Conquer, JS ;

Cooper, RA ;

Culley, KM ;

Dawson, E ;

Dearden, FL ;

Durbin, RM ;

de Jong, PJ ;

Dhami, PD ;

Earthrowl, ME ;

Edwards, CA ;

Evans, RS ;

Gillson, CJ ;

Ghori, J ;

Green, L ;

Gwilliam, R ;

Halls, KS ;

Hammond, S ;

Harper, GL ;

Heathcott, RW ;

Holden, JL .

NATURE, 2001, 409 (6822) :942-943

[3]

High resolution microarray comparative genomic hybridisation analysis using spotted oligonucleotides [J].

Carvalho, B ;

Ouwerkerk, E ;

Meijer, GA ;

Ylstra, B .

JOURNAL OF CLINICAL PATHOLOGY, 2004, 57 (06) :644-646

[4]

Integration of cytogenetic landmarks into the draft sequence of the human genome [J].

Cheung, VG ;

Nowak, N ;

Jang, W ;

Kirsch, IR ;

Zhao, S ;

Chen, XN ;

Furey, TS ;

Kim, UJ ;

Kuo, WL ;

Olivier, M ;

Conroy, J ;

Kasprzyk, A ;

Massa, H ;

Yonescu, R ;

Sait, S ;

Thoreen, C ;

Snijders, A ;

Lemyre, E ;

Bailey, JA ;

Bruzel, A ;

Burrill, WD ;

Clegg, SM ;

Collins, S ;

Dhami, P ;

Friedman, C ;

Han, CS ;

Herrick, S ;

Lee, J ;

Ligon, AH ;

Lowry, S ;

Morley, M ;

Narasimhan, S ;

Osoegawa, K ;

Peng, Z ;

Plajzer-Frick, I ;

Quade, BJ ;

Scott, D ;

Sirotkin, K ;

Thorpe, AA ;

Gray, JW ;

Hudson, J ;

Pinkel, D ;

Ried, T ;

Rowen, L ;

Shen-Ong, GL ;

Strausberg, RL ;

Birney, E ;

Callen, DF ;

Cheng, JF ;

Cox, DR .

NATURE, 2001, 409 (6822) :953-958

[5]

A high-resolution survey of deletion polymorphism in the human genome [J].

Conrad, DF ;

Andrews, TD ;

Carter, NP ;

Hurles, ME ;

Pritchard, JK .

NATURE GENETICS, 2006, 38 (01) :75-81

[6]

Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome [J].

Dhami, P ;

Coffey, AJ ;

Abbs, S ;

Vermeesch, JR ;

Dumanski, JP ;

Woodward, KJ ;

Andrews, RM ;

Langford, C ;

Vetrie, D .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (05) :750-762

[7]

EDWARDS A, 1991, AM J HUM GENET, V49, P746

[8]

Accurate and reliable high-throughput detection of copy number variation in the human genome [J].

Fiegler, Heike ;

Redon, Richard ;

Andrews, Dan ;

Scott, Carol ;

Andrews, Robert ;

Carder, Carol ;

Clark, Richard ;

Dovey, Oliver ;

Ellis, Peter ;

Feuk, Lars ;

French, Lisa ;

Hunt, Paul ;

Kalaitzopoulos, Dimitrios ;

Larkin, James ;

Montgomery, Lyndal ;

Perry, George H. ;

Plumb, Bob W. ;

Porter, Keith ;

Rigby, Rachel E. ;

Rigler, Diane ;

Valsesia, Armand ;

Langford, Cordelia ;

Humphray, Sean J. ;

Scherer, Stephen W. ;

Lee, Charles ;

Hurles, Matthew E. ;

Carter, Nigel P. .

GENOME RESEARCH, 2006, 16 (12) :1566-1574

[9]

Copy number variation: New insights in genome diversity [J].

Freeman, Jennifer L. ;

Perry, George H. ;

Feuk, Lars ;

Redon, Richard ;

McCarroll, Steven A. ;

Altshuler, David M. ;

Aburatani, Hiroyuki ;

Jones, Keith W. ;

Tyler-Smith, Chris ;

Hurles, Matthew E. ;

Carter, Nigel P. ;

Scherer, Stephen W. ;

Lee, Charles .

GENOME RESEARCH, 2006, 16 (08) :949-961

[10]

Ultra-high resolution array painting facilitates breakpoint sequencing [J].

Gribble, S. M. ;

Kalaitzopoulos, D. ;

Burford, D. C. ;

Prigmore, E. ;

Selzer, R. R. ;

Ng, B. L. ;

Matthews, N. S. W. ;

Porter, K. M. ;

Curley, R. ;

Lindsay, S. J. ;

Baptista, J. ;

Richmond, T. A. ;

Carter, N. P. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (01) :51-58

← 1 2 3 4 5 6 →