Diagnostic genome profiling: unbiased whole genome or targeted analysis?

作者: Joris A. Veltman , Bert B.A. de Vries

DOI: 10.2353/JMOLDX.2006.060131

关键词:

摘要: This commentary appears in conjunction with the Review Article by Bejjani et al.1 In these articles, The Journal of Molecular Diagnostics explores array comparative genomic hybridization (CGH) and offers two perspectives on question testing using whole-genome arrays or targeted arrays.

参考文章(28)
Antoine M. Snijders, Norma Nowak, Richard Segraves, Stephanie Blackwood, Nils Brown, Jeffrey Conroy, Greg Hamilton, Anna Katherine Hindle, Bing Huey, Karen Kimura, Sindy Law, Ken Myambo, Joel Palmer, Bauke Ylstra, Jingzhu Pearl Yue, Joe W. Gray, Ajay N. Jain, Daniel Pinkel, Donna G. Albertson, Assembly of microarrays for genome-wide measurement of DNA copy number. Nature Genetics. ,vol. 29, pp. 263- 264 ,(2001) , 10.1038/NG754
Daniel Pinkel, Richard Segraves, Damir Sudar, Steven Clark, Ian Poole, David Kowbel, Colin Collins, Wen-Lin Kuo, Chira Chen, Ye Zhai, Shanaz H. Dairkee, Britt-marie Ljung, Joe W. Gray, Donna G. Albertson, High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays Nature Genetics. ,vol. 20, pp. 207- 211 ,(1998) , 10.1038/2524
Bassem A. Bejjani, Lisa G. Shaffer, Application of array-based comparative genomic hybridization to clinical diagnostics. The Journal of Molecular Diagnostics. ,vol. 8, pp. 528- 533 ,(2006) , 10.2353/JMOLDX.2006.060029
Heike Fiegler, Philippa Carr, Eleanor J. Douglas, Deborah C. Burford, Sarah Hunt, James Smith, David Vetrie, Patricia Gorman, Ian P.M. Tomlinson, Nigel P. Carter, DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones Genes, Chromosomes and Cancer. ,vol. 36, pp. 361- 374 ,(2003) , 10.1002/GCC.10155
The BAC Resource Consortium, V. G. Cheung, N. Nowak, W. Jang, I. R. Kirsch, S. Zhao, X.-N. Chen, T. S. Furey, U.-J. Kim, W.-L. Kuo, M. Olivier, J. Conroy, A. Kasprzyk, H. Massa, R. Yonescu, S. Sait, C. Thoreen, A. Snijders, E. Lemyre, J. A. Bailey, A. Bruzel, W. D. Burrill, S. M. Clegg, S. Collins, P. Dhami, C. Friedman, C. S. Han, S. Herrick, J. Lee, A. H. Ligon, S. Lowry, M. Morley, S. Narasimhan, K. Osoegawa, Z. Peng, I. Plajzer-Frick, B. J. Quade, D. Scott, K. Sirotkin, A. A. Thorpe, J. W. Gray, J. Hudson, D. Pinkel, T. Ried, L. Rowen, G. L. Shen-Ong, R. L. Strausberg, E. Birney, D. F. Callen, J.-F. Cheng, D. R. Cox, N. A. Doggett, N. P. Carter, E. E. Eichler, D. Haussler, J. R. Korenberg, C. C. Morton, D. Albertson, G. Schuler, P. J. de Jong, B. J. Trask, Integration of cytogenetic landmarks into the draft sequence of the human genome Nature. ,vol. 409, pp. 953- 958 ,(2001) , 10.1038/35057192
Andrew Wong, Christa Lese Martin, Konstantina Heretis, Teresa Ruffalo, Kim Wilber, Walter King, David H Ledbetter, Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. Genetics in Medicine. ,vol. 7, pp. 264- 271 ,(2005) , 10.1097/01.GIM.0000160076.14102.EC
Sau W Cheung, Chad A Shaw, Wei Yu, Jiangzham Li, Zhishuo Ou, Ankita Patel, Svetlana A Yatsenko, Mitchell L Cooper, Patti Furman, Pawal Stankiewicz, James R Lupski, A Craig Chinault, Arthur L Beaudet, Development and validation of a CGH microarray for clinical cytogenetic diagnosis Genetics in Medicine. ,vol. 7, pp. 422- 432 ,(2005) , 10.1097/01.GIM.0000170992.63691.32
J.M. Friedman, Ágnes Baross, Allen D. Delaney, Adrian Ally, Laura Arbour, Jennifer Asano, Dione K. Bailey, Sarah Barber, Patricia Birch, Mabel Brown-John, Manqiu Cao, Susanna Chan, David L. Charest, Noushin Farnoud, Nicole Fernandes, Stephane Flibotte, Anne Go, William T. Gibson, Robert A. Holt, Steven J.M. Jones, Giulia C. Kennedy, Martin Krzywinski, Sylvie Langlois, Haiyan I. Li, Barbara C. McGillivray, Tarun Nayar, Trevor J. Pugh, Evica Rajcan-Separovic, Jacqueline E. Schein, Angelique Schnerch, Asim Siddiqui, Margot I. Van Allen, Gary Wilson, Siu-Li Yong, Farah Zahir, Patrice Eydoux, Marco A. Marra, Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. American Journal of Human Genetics. ,vol. 79, pp. 500- 513 ,(2006) , 10.1086/507471
Andrew J. Sharp, Devin P. Locke, Sean D. McGrath, Ze Cheng, Jeffrey A. Bailey, Rhea U. Vallente, Lisa M. Pertz, Royden A. Clark, Stuart Schwartz, Rick Segraves, Vanessa V. Oseroff, Donna G. Albertson, Daniel Pinkel, Evan E. Eichler, Segmental Duplications and Copy-Number Variation in the Human Genome American Journal of Human Genetics. ,vol. 77, pp. 78- 88 ,(2005) , 10.1086/431652
Lisenka E.L.M. Vissers, Bert B.A. de Vries, Kazutoyo Osoegawa, Irene M. Janssen, Ton Feuth, Chik On Choy, Huub Straatman, Walter van der Vliet, Erik H.L.P.G. Huys, Anke van Rijk, Dominique Smeets, Conny M.A. van Ravenswaaij-Arts, Nine V. Knoers, Ineke van der Burgt, Pieter J. de Jong, Han G. Brunner, Ad Geurts van Kessel, Eric F.P.M. Schoenmakers, Joris A. Veltman, Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities American Journal of Human Genetics. ,vol. 73, pp. 1261- 1270 ,(2003) , 10.1086/379977