bib copy number variations (2007)

Bibliography on copy number variations (2007)

front page
2008
2007
2006
2005
2004
2003
2002
2001
2000
90s
80s
glossary
links
programs

H Aburatani (2007), "Copy Number Analysis in Cancer Research", Am. Assoc. Cancer Res. Education Book, 2007:213-218.
[html]
Agnes Baross, Allen D Delaney, H Irene Li, Tarun Nayar, Stephane Flibotte, Hong Qian, Susanna Y Chan, Jennifer Asano, Adrian Ally, Manqiu Cao, Patricia Birch, Mabel Brown-John, Nicole Fernandes, Anne Go, Giulia Kennedy, Sylvie Langlois, Patrice Eydoux, J M Friedman, Marco A Marra (2007), "Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data", BMC Bioinformatics, 8:368.
[abstract]
F Bayrakli, K Bilguvar, CE Mason, ML DiLuna, Y Bayri, L Gungor, M Terzi, SM Mane, RP Lifton, MW State, M Gunel (2007), "Rapid identification of disease-causing mutations using copy number analysis within linkage intervals", Human Mutation, 28(12):1236-1240.
[ abstract]
Jacques S Beckmann, Xavier Estivill, Stylianos E Antonarakis (2007), "Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability", Nature Reviews Genetics, 8:639-646.
[abstract]
Andreas Buness, Ruprecht Kuner, Markus Ruschhaupt, Annemarie Poustka, Holger Sültmann, Achim Tresch (2007), "Identification of aberrant chromosomal regions from gene expression microarray studies applied to human breast cancer", Bioinformatics, 23(17):2273-2280.
[abstract]
Nigel P Carter (2007), "Methods and strategies for analyzing copy number variation using DNA microarrays", Nature Genetics, 39(7 suppl):S16-S21.
[html] [PDF]
Stefano Colella, Christopher Yau,, Jennifer M Taylor, Ghazala Mirza, Helen Butler, Penny Clouston, Anne S Bassett, Anneke Seller, Christopher C Holmes, Jiannis Ragoussis (2007), "QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data", Nucleic Acids Research, 35(6):2013-2025
[html]
L Conde, D Montaner, J Burguet-Castell, J Tarraga, I Medina, F Al-Shahrour, J Dopazo (2007), "ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling", Nucleic Acids Research, 35(suppl 2):W81-W85.
[abstract]
Donald F Conrad, Matthew E Hurles (2007), "The population genetics of structural variation", Nature Genetics, 39(7 suppl):S30-S36.
[abstract]
Gregory M Cooper, Deborah A Nickerson, Evan E Eichler (2007), "Mutational and selective effects on copy-number variants in the human genome", Nature Genetics, 39(7 suppl):S22-S29.
[abstract]
A Daniel, A Darmanian, G Peters, L Goodwin, JR Hort (2007), "An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies", American Journal of Medical Genetics A, 143(20):2452-2459.
AJ De Smith, A Tsalenko, N Sampas, A Scheffer, NA Yamada, P Tsang, A Ben-Dor, Z Yakhini, RJ Ellis, L Bruhn, S Laderman, P Froguel, AI Blakemore (2007), "Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases", Human Molecular Genetics, 16(23):2783-2794.
R Diaz-Uriarte, A Alibes, E R Morrissey, A Canada, O M Rueda, M L Neves (2007), "Asterias: integrated analysis of expression and aCGH data using an open-source, web-based, parallelized software suite", Nucleic Acids Research, 35(suppl 2):W75-W80.
[abstract]
R Díaz-Uriarte, OM Rueda (2007), "ADaCGH: A parallelized web-based application and R package for the analysis of aCGH data", PLoS One, 2(1):e737.
EB Dopman, DL Hartl (2007), "A portrait of copy-number polymorphism in Drosophila melanogaster", Proceedings of the National Academy of Sciences, 104(50):19920-19925.
[abstract] [html]
CM Egan, S Sridhar, M Wigler, IM Hall (2007), "Recurrent DNA copy number variation in the laboratory mouse", Nature Genetics, 39(11):1384-1389.
Xavier Estivill, Lluís Armengol (2007), "Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies", PLoS Genetics, 3(10):e190.
[ abstract] [html]
Manuela Fanciulli, Penny J Norsworthy, Enrico Petretto, Rong Dong, Lorraine Harper, Lavanya Kamesh, Joanne M Heward, Stephen C L Gough, Adam de Smith, Alexandra I F Blakemore, Philippe Froguel, Catherine J Owen, Simon H S Pearce, Luis Teixeira, Loic Guillevin, Deborah S Cunninghame Graham, Charles D Pusey, H Terence Cook0, Timothy J Vyse, Timothy J Aitman, (2007), "FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity", Nature Genetics, 39:721-723.
[ abstract]
Timothy A Graubert, Patrick Cahan, Deepa Edwin, Rebecca R Selzer, Todd A Richmond, Peggy S Eis, William D Shannon, Xia Li, Howard L McLeod, James M Cheverud, Timothy J Ley (2007), "A high-resolution map of segmental DNA copy number variation in the mouse genome", PLoS Genetics, 3(1):e3.
[ abstract]
J Hu, JB Gao, Y Cao, E Bottinger, W Zhang (2007), "Exploiting noise in array CGH data to improve detection of DNA copy number change", Nucleic Acids Research, 35(5):e35-e35.
[abstract]
J Huang, A Gusnanto, K O'Sullivan, J Staaf, A Borg, Y Pawitan (2007), "Robust smooth segmentation approach for array CGH data analysis", Bioinformatics, 23(18):2463-2469.
[abstract]
Human Genome Structural Variation Working Group, Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH (2007), "Completing the map of human genetic variation", Nature, 447(7141):161-165.
Ph Hupé, Ph La Rosa, S Liva, S Lair, N Servant, E Barillot (2007), "ACTuDB, a new database for the integrated analysis of array-CGH and clinical data for tumors", Oncogene, 26:6641-6652.
[ abstract]
Hildegard Kehrer-Sawatzki (2007), "What a difference copy number variation makes", BioEssays, 29(4):311-313.
[ abstract]
JR Kohler, DJ Cutler (2007), "Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies", American Journal of Human Genetics, 81(4):684-699.
[html]
JO Korbel, AE Urban, F Grubert, J Du, TE Royce, P Starr, G Zhong, BS Emanuel, SM Weissman, M Snyder, MB Gerstein (2007), "Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome", Proceedings of the National Academy of Sciences, 104(24):10110-10115.
[abstract] [html]
Konstantina Kosta, Ian Sabroe, Jonathan Göke, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, and M. Dawn Teare (2007), "A Bayesian Approach to Copy-Number - Polymorphism Analysis in Nuclear Pedigrees", American Journal of Human Genetics, 81:808-812.
[abstract]
HM Lachman, E Pedrosa, OA Petruolo, M Cockerham, A Papolos, T Novak, DF Papolos, P Stopkova (2007), "Increase in GSK3beta gene copy number variation in bipolar disorder", American Journal of Medical Genetics B, 144(3):259-265.
Thomas Laframboise, David Harrington, Barbara A Weir (2007), "PLASQ: a generalized linear model-based procedure to determine allelic dosage in cancer cells from SNP array data", Biostatistics, 8(2):323-336.
[abstract]
Kwan-Wood G Lam, Alec J Jeffreys (2007), "Processes of de novo duplication of human alpha-globin genes", Proceedings of the National Academy of Sciences, 104(26):10950-10955.
[html] [html]
Philippe Lamy, Claus L Andersen, Lars Dyrskjot, Niels Torring, Carsten Wiuf (2007), "A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays", BMC bioinformatics, 8:435.
[abstract]
Charles Lee, A John Iafrate, Arthur R Brothman (2007), "Copy number variations and clinical cytogenetic diagnosis of constitutional disorders", Nature Genetics, 39(7 suppl):S48-S54
[abstract]
Y Li, J Zhu (2007), "Analysis of array CGH data for cancer studies using fused quantile regression", Bioinformatics, 23(18):2470-2476.
[abstract]
Jun Liu, Sanjay Ranka, and Tamer Kahveci (2007), "Markers improve clustering of CGH data", Bioinformatics, 23: 450-457.
[abstract]
R Lucito, S Suresh, K Walter, A Pandey, B Lakshmi, A Krasnitz, J Sebat, M Wigler, AP Klein, K Brune, E Palmisano, A Maitra, M Goggins, RH Hruban (2007), "Copy-number variants in patients with a strong family history of pancreatic cancer", Cancer Biology & Therapy, 6(10):1592-1599.
JR Lupski (2007), "Structural variation in the human genome", New England Journal of Medicine, 356:1169-1171.
[abstract]
JR Lupski (2007), "Genomic rearrangements and sporadic disease", Nature Genetics, 39(7 suppl):S43-S47
[abstract]
I Madrigal, L Rodríguez-Revenga, L Armengol, E González, B Rodriguez, C Badenas, A Sánchez, F Martínez, M Guitart, I Fernández, JA Arranz, M Tejada, LA Pérez-Jurado, X Estivill, M Milà (2007), "X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation", BMC Genomics, 8:443.
John C Marioni, Natalie P Thorne, Armand Valsesia, Tomas Fitzgerald, Richard Redon, Heike Fiegler, T Daniel Andrews, Barbara E Stranger, Andrew G Lynch, Emmanouil T Dermitzakis, Nigel P Carter, Simon Tavaré, Matthew E Hurles (2007), "Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization", Genome Biology, 8:R228.
[abstract
Steven A McCarroll, David M Altshuler (2007), "Copy-number variation and association studies of human disease", Nature Genetics, 39(7 suppl):S37-S42.
[html]
M Nozawa, Y Kawahara, M Nei (2007), "Genomic drift and copy number variation of sensory receptor genes in humans", Proceedings of the National Academy of Sciences, 104(51):20421-20426.
[abstract] [html]
GH Perry, NJ Dominy, KG Claw, AS Lee, H Fiegler, R Redon, J Werner, FA Villanea, JL Mountain, R Misra, NP Carter, C Lee, AC Stone (2007), "Diet and the evolution of human amylase gene copy number variation", Nature Genetics, 39(10):1256-1260.
[abstract]
D Pinto, C Marshall, L Feuk, SW Scherer (2007), "Copy-number variation in control population cohorts", Human Molecular Genetics, 16(spec 2):R168-R73.
Rebecca L Pollex, Robert A Hegele (2007), "Copy number variation in the human genome and its implications for cardiovascular disease", Circulation, 115:3130-3138.
[ abstract]
L Rodriguez-Revenga, M Mila, C Rosenberg, A Lamb, C Lee (2007), "Structural variation in the human genome: the impact of copy number variants on clinical diagnosis", Genetics in Medicine, 9(9):600-606.
[abstract]
Oscar M Rueda and Ramon Diaz-Uriarte (2007), "Flexible and accurate detection of genomic copy-number changes from aCGH", PLoS Computational Biology, 3(6):e122.
Oscar M Rueda and Ramon Diaz-Uriarte (2007), "A response to Yu et al. 'A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array', BMC Bioinformatics 2007, 8: 145", BMC Bioinformatics, 8:394.
[abstract]
Stephen W Scherer, Charles Lee, Ewan Birney, David M Altshuler, Evan E Eichler, Nigel P Carter, Matthew E Hurles, Lars Feuk (2007), "Challenges and standards in integrating surveys of structural variation", Nature Genetics, 39(7 Suppl):S7-S15.
[abstract]
J Sebat (2007), "Major changes in our DNA lead to major changes in our thinking", Nature Genetics, 39(7 Suppl):S3-S5
[abstract]
J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, B Yamrom, S Yoon, A Krasnitz, J Kendall, A Leotta, D Pai, R Zhang, YH Lee, J Hicks, SJ Spence, AT Lee, K Puura, T Lehtimäki, D Ledbetter, PK Gregersen, J Bregman, JS Sutcliffe, V Jobanputra, W Chung, D Warburton, MC King, D Skuse, DH Geschwind, TC Gilliam, K Ye, M Wigler (2007), "Strong association of de novo copy number mutations with autism", Science, 316(5823):445-449.
Dmitriy Skvortsov, Diana Abdueva, Michael E Stitzer, Steven E Finkel, Simon Tavaré (2007), "Using expression arrays for copy number detection: an example from E. coli", BMC Bioinformatics, 8:203
[abstract]
Yiping Shen, David T Miller, Sau Wai Cheung, Va Lip, Xiaoming Sheng, Keith Tomaszewicz, Hong Shao, Hong Fang, Hung Siv Tang, Mira Irons, Christopher A Walsh, Orah Platt, James F Gusella, Bai-Lin Wu (2007), "Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance", Clinical Chemistry 53: 2051-2059.
[abstract]
Susann Stjernqvist, Tobias Rydén, Martin Sköld, and Johan Staaf (2007), "Continuous-index hidden Markov modelling of array CGH copy number data", Bioinformatics, 23: 1006-1014.
[abstract]
Barbara E Stranger, Matthew S Forrest, Mark Dunning, Catherine E Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine P Bird, Anna de Grassi, Charles Lee, Chris Tyler-Smith, Nigel Carter, Stephen W Scherer, Simon Tavaré, Panagiotis Deloukas, Matthew E Hurles, Emmanouil T Dermitzakis (2007), "Relative impact of nucleotide and copy number variation on gene expression phenotypes", Science, 315(5813):848-853.
[abstract]
Mark A Van de Wiel, Kyung In Kim, Sjoerd J Vosse, Wessel N van Wieringen, Saskia M. Wilting, and Bauke Ylstra (2007), "CGHcall: calling aberrations for array CGH tumor profiles", Bioinformatics, 23: 892-894.
[abstract]
ES Venkatraman and Adam B Olshen (2007), "A faster circular binary segmentation algorithm for the analysis of array CGH data", Bioinformatics, 23: 657-663.
[abstract]
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan FA Grant, Hakon Hakonarson, and Maja Bucan (2007), "PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data", Genome Research, 17:1665-1674
[abstract]
SJ White, LE Vissers, A Geurts van Kessel, RX de Menezes, E Kalay, AE Lehesjoki, PC Giordano, E van de Vosse, MH Breuning, HG Brunner, JT den Dunnen, JA Veltman (2007), "Variation of CNV distribution in five different ethnic populations", Cytogenetics and Genome Research, 118(1):19-30.
K Wong, R deLeeuw, N Dosanjh, L Kimm, Z Cheng, D Horsman, C MacAulay, R Ng, C Brown, E Eichler (2007), "A comprehensive analysis of common copy-number variations in the human genome", American Journal of Human Genetics, 80(1):91-104.
[html]
B Xing, CMT Greenwood, SB Bull (2007), "A hierarchical clustering method for estimating copy number variation", Biostatistics, 8(3):632-653.
[abstract]
Y Yang, EK Chung, YL Wu, SL Savelli, HN Nagaraja, B Zhou, M Hebert, KN Jones, Y Shu, K Kitzmiller, CA Blanchong, KL McBride, GC Higgins, RM Rennebohm, RR Rice, KV Hackshaw, RA Roubey, JM Grossman, BP Tsao, DJ Birmingham, BH Rovin, LA Hebert, CY Yu (2007), "Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans", American Journal of Human Genetics, 80(6):1037-1054.
[html]
Jianzhi Zhang (2007), "The drifting human genome" (commentary), Proceedings of the National Academy of Sciences, 104(51):20147-20148.
[html] [html]
Nancy R Zhang, David O Siegmund (2007) "A modified Bayes information criterion with application to the analysis of comparative genomic hybridization data", Biometrics, 63(1):22-32.
[ abstract] [PDF]
X Zhao, A Leotta, V Kustanovich, C Lajonchere, DH Geschwind, K Law, P Law, S Qiu, C Lord, J Sebat, K Ye, M Wigler (2007), "A unified genetic theory for sporadic and inherited autism", Proceedings of the National Academy of Sciences, 104(31):12831-12836.
[abstract] [html]
George Zogopoulos, Kevin CH Ha, Faisal Naqib, Sara Moore, Hyeja Kim, Alexandre Montpetit, Frederick Robidoux, Philippe Laflamme, Michelle Cotterchio, Celia Greenwood, Stephen W Scherer, Brent Zanke, Thomas J Hudson, Gary D Bader, Steven Gallinger (2007) "Germ-line DNA copy number variation frequencies in a large North American population", Human Genetics, 122(3-4):345-353.
[ abstract]

		Bibliography on copy number variations (2007)
	front page 2008 2007 2006 2005 2004 2003 2002 2001 2000 90s 80s glossary links programs	H Aburatani (2007), "Copy Number Analysis in Cancer Research", Am. Assoc. Cancer Res. Education Book, 2007:213-218. [html] Agnes Baross, Allen D Delaney, H Irene Li, Tarun Nayar, Stephane Flibotte, Hong Qian, Susanna Y Chan, Jennifer Asano, Adrian Ally, Manqiu Cao, Patricia Birch, Mabel Brown-John, Nicole Fernandes, Anne Go, Giulia Kennedy, Sylvie Langlois, Patrice Eydoux, J M Friedman, Marco A Marra (2007), "Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data", BMC Bioinformatics, 8:368. [abstract] F Bayrakli, K Bilguvar, CE Mason, ML DiLuna, Y Bayri, L Gungor, M Terzi, SM Mane, RP Lifton, MW State, M Gunel (2007), "Rapid identification of disease-causing mutations using copy number analysis within linkage intervals", Human Mutation, 28(12):1236-1240. [ abstract] Jacques S Beckmann, Xavier Estivill, Stylianos E Antonarakis (2007), "Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability", Nature Reviews Genetics, 8:639-646. [abstract] Andreas Buness, Ruprecht Kuner, Markus Ruschhaupt, Annemarie Poustka, Holger Sültmann, Achim Tresch (2007), "Identification of aberrant chromosomal regions from gene expression microarray studies applied to human breast cancer", Bioinformatics, 23(17):2273-2280. [abstract] Nigel P Carter (2007), "Methods and strategies for analyzing copy number variation using DNA microarrays", Nature Genetics, 39(7 suppl):S16-S21. [html] [PDF] Stefano Colella, Christopher Yau,, Jennifer M Taylor, Ghazala Mirza, Helen Butler, Penny Clouston, Anne S Bassett, Anneke Seller, Christopher C Holmes, Jiannis Ragoussis (2007), "QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data", Nucleic Acids Research, 35(6):2013-2025 [html] L Conde, D Montaner, J Burguet-Castell, J Tarraga, I Medina, F Al-Shahrour, J Dopazo (2007), "ISACGH: a web-based environment for the analysis of Array CGH and gene expression which includes functional profiling", Nucleic Acids Research, 35(suppl 2):W81-W85. [abstract] Donald F Conrad, Matthew E Hurles (2007), "The population genetics of structural variation", Nature Genetics, 39(7 suppl):S30-S36. [abstract] Gregory M Cooper, Deborah A Nickerson, Evan E Eichler (2007), "Mutational and selective effects on copy-number variants in the human genome", Nature Genetics, 39(7 suppl):S22-S29. [abstract] A Daniel, A Darmanian, G Peters, L Goodwin, JR Hort (2007), "An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies", American Journal of Medical Genetics A, 143(20):2452-2459. AJ De Smith, A Tsalenko, N Sampas, A Scheffer, NA Yamada, P Tsang, A Ben-Dor, Z Yakhini, RJ Ellis, L Bruhn, S Laderman, P Froguel, AI Blakemore (2007), "Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases", Human Molecular Genetics, 16(23):2783-2794. R Diaz-Uriarte, A Alibes, E R Morrissey, A Canada, O M Rueda, M L Neves (2007), "Asterias: integrated analysis of expression and aCGH data using an open-source, web-based, parallelized software suite", Nucleic Acids Research, 35(suppl 2):W75-W80. [abstract] R Díaz-Uriarte, OM Rueda (2007), "ADaCGH: A parallelized web-based application and R package for the analysis of aCGH data", PLoS One, 2(1):e737. EB Dopman, DL Hartl (2007), "A portrait of copy-number polymorphism in Drosophila melanogaster", Proceedings of the National Academy of Sciences, 104(50):19920-19925. [abstract] [html] CM Egan, S Sridhar, M Wigler, IM Hall (2007), "Recurrent DNA copy number variation in the laboratory mouse", Nature Genetics, 39(11):1384-1389. Xavier Estivill, Lluís Armengol (2007), "Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies", PLoS Genetics, 3(10):e190. [ abstract] [html] Manuela Fanciulli, Penny J Norsworthy, Enrico Petretto, Rong Dong, Lorraine Harper, Lavanya Kamesh, Joanne M Heward, Stephen C L Gough, Adam de Smith, Alexandra I F Blakemore, Philippe Froguel, Catherine J Owen, Simon H S Pearce, Luis Teixeira, Loic Guillevin, Deborah S Cunninghame Graham, Charles D Pusey, H Terence Cook0, Timothy J Vyse, Timothy J Aitman, (2007), "FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity", Nature Genetics, 39:721-723. [ abstract] Timothy A Graubert, Patrick Cahan, Deepa Edwin, Rebecca R Selzer, Todd A Richmond, Peggy S Eis, William D Shannon, Xia Li, Howard L McLeod, James M Cheverud, Timothy J Ley (2007), "A high-resolution map of segmental DNA copy number variation in the mouse genome", PLoS Genetics, 3(1):e3. [ abstract] J Hu, JB Gao, Y Cao, E Bottinger, W Zhang (2007), "Exploiting noise in array CGH data to improve detection of DNA copy number change", Nucleic Acids Research, 35(5):e35-e35. [abstract] J Huang, A Gusnanto, K O'Sullivan, J Staaf, A Borg, Y Pawitan (2007), "Robust smooth segmentation approach for array CGH data analysis", Bioinformatics, 23(18):2463-2469. [abstract] Human Genome Structural Variation Working Group, Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH (2007), "Completing the map of human genetic variation", Nature, 447(7141):161-165. Ph Hupé, Ph La Rosa, S Liva, S Lair, N Servant, E Barillot (2007), "ACTuDB, a new database for the integrated analysis of array-CGH and clinical data for tumors", Oncogene, 26:6641-6652. [ abstract] Hildegard Kehrer-Sawatzki (2007), "What a difference copy number variation makes", BioEssays, 29(4):311-313. [ abstract] JR Kohler, DJ Cutler (2007), "Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies", American Journal of Human Genetics, 81(4):684-699. [html] JO Korbel, AE Urban, F Grubert, J Du, TE Royce, P Starr, G Zhong, BS Emanuel, SM Weissman, M Snyder, MB Gerstein (2007), "Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome", Proceedings of the National Academy of Sciences, 104(24):10110-10115. [abstract] [html] Konstantina Kosta, Ian Sabroe, Jonathan Göke, Robert J. Nibbs, John Tsanakas, Moira K. Whyte, and M. Dawn Teare (2007), "A Bayesian Approach to Copy-Number - Polymorphism Analysis in Nuclear Pedigrees", American Journal of Human Genetics, 81:808-812. [abstract] HM Lachman, E Pedrosa, OA Petruolo, M Cockerham, A Papolos, T Novak, DF Papolos, P Stopkova (2007), "Increase in GSK3beta gene copy number variation in bipolar disorder", American Journal of Medical Genetics B, 144(3):259-265. Thomas Laframboise, David Harrington, Barbara A Weir (2007), "PLASQ: a generalized linear model-based procedure to determine allelic dosage in cancer cells from SNP array data", Biostatistics, 8(2):323-336. [abstract] Kwan-Wood G Lam, Alec J Jeffreys (2007), "Processes of de novo duplication of human alpha-globin genes", Proceedings of the National Academy of Sciences, 104(26):10950-10955. [html] [html] Philippe Lamy, Claus L Andersen, Lars Dyrskjot, Niels Torring, Carsten Wiuf (2007), "A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays", BMC bioinformatics, 8:435. [abstract] Charles Lee, A John Iafrate, Arthur R Brothman (2007), "Copy number variations and clinical cytogenetic diagnosis of constitutional disorders", Nature Genetics, 39(7 suppl):S48-S54 [abstract] Y Li, J Zhu (2007), "Analysis of array CGH data for cancer studies using fused quantile regression", Bioinformatics, 23(18):2470-2476. [abstract] Jun Liu, Sanjay Ranka, and Tamer Kahveci (2007), "Markers improve clustering of CGH data", Bioinformatics, 23: 450-457. [abstract] R Lucito, S Suresh, K Walter, A Pandey, B Lakshmi, A Krasnitz, J Sebat, M Wigler, AP Klein, K Brune, E Palmisano, A Maitra, M Goggins, RH Hruban (2007), "Copy-number variants in patients with a strong family history of pancreatic cancer", Cancer Biology & Therapy, 6(10):1592-1599. JR Lupski (2007), "Structural variation in the human genome", New England Journal of Medicine, 356:1169-1171. [abstract] JR Lupski (2007), "Genomic rearrangements and sporadic disease", Nature Genetics, 39(7 suppl):S43-S47 [abstract] I Madrigal, L Rodríguez-Revenga, L Armengol, E González, B Rodriguez, C Badenas, A Sánchez, F Martínez, M Guitart, I Fernández, JA Arranz, M Tejada, LA Pérez-Jurado, X Estivill, M Milà (2007), "X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation", BMC Genomics, 8:443. John C Marioni, Natalie P Thorne, Armand Valsesia, Tomas Fitzgerald, Richard Redon, Heike Fiegler, T Daniel Andrews, Barbara E Stranger, Andrew G Lynch, Emmanouil T Dermitzakis, Nigel P Carter, Simon Tavaré, Matthew E Hurles (2007), "Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization", Genome Biology, 8:R228. [abstract Steven A McCarroll, David M Altshuler (2007), "Copy-number variation and association studies of human disease", Nature Genetics, 39(7 suppl):S37-S42. [html] M Nozawa, Y Kawahara, M Nei (2007), "Genomic drift and copy number variation of sensory receptor genes in humans", Proceedings of the National Academy of Sciences, 104(51):20421-20426. [abstract] [html] GH Perry, NJ Dominy, KG Claw, AS Lee, H Fiegler, R Redon, J Werner, FA Villanea, JL Mountain, R Misra, NP Carter, C Lee, AC Stone (2007), "Diet and the evolution of human amylase gene copy number variation", Nature Genetics, 39(10):1256-1260. [abstract] D Pinto, C Marshall, L Feuk, SW Scherer (2007), "Copy-number variation in control population cohorts", Human Molecular Genetics, 16(spec 2):R168-R73. Rebecca L Pollex, Robert A Hegele (2007), "Copy number variation in the human genome and its implications for cardiovascular disease", Circulation, 115:3130-3138. [ abstract] L Rodriguez-Revenga, M Mila, C Rosenberg, A Lamb, C Lee (2007), "Structural variation in the human genome: the impact of copy number variants on clinical diagnosis", Genetics in Medicine, 9(9):600-606. [abstract] Oscar M Rueda and Ramon Diaz-Uriarte (2007), "Flexible and accurate detection of genomic copy-number changes from aCGH", PLoS Computational Biology, 3(6):e122. Oscar M Rueda and Ramon Diaz-Uriarte (2007), "A response to Yu et al. 'A forward-backward fragment assembling algorithm for the identification of genomic amplification and deletion breakpoints using high-density single nucleotide polymorphism (SNP) array', BMC Bioinformatics 2007, 8: 145", BMC Bioinformatics, 8:394. [abstract] Stephen W Scherer, Charles Lee, Ewan Birney, David M Altshuler, Evan E Eichler, Nigel P Carter, Matthew E Hurles, Lars Feuk (2007), "Challenges and standards in integrating surveys of structural variation", Nature Genetics, 39(7 Suppl):S7-S15. [abstract] J Sebat (2007), "Major changes in our DNA lead to major changes in our thinking", Nature Genetics, 39(7 Suppl):S3-S5 [abstract] J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, B Yamrom, S Yoon, A Krasnitz, J Kendall, A Leotta, D Pai, R Zhang, YH Lee, J Hicks, SJ Spence, AT Lee, K Puura, T Lehtimäki, D Ledbetter, PK Gregersen, J Bregman, JS Sutcliffe, V Jobanputra, W Chung, D Warburton, MC King, D Skuse, DH Geschwind, TC Gilliam, K Ye, M Wigler (2007), "Strong association of de novo copy number mutations with autism", Science, 316(5823):445-449. Dmitriy Skvortsov, Diana Abdueva, Michael E Stitzer, Steven E Finkel, Simon Tavaré (2007), "Using expression arrays for copy number detection: an example from E. coli", BMC Bioinformatics, 8:203 [abstract] Yiping Shen, David T Miller, Sau Wai Cheung, Va Lip, Xiaoming Sheng, Keith Tomaszewicz, Hong Shao, Hong Fang, Hung Siv Tang, Mira Irons, Christopher A Walsh, Orah Platt, James F Gusella, Bai-Lin Wu (2007), "Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance", Clinical Chemistry 53: 2051-2059. [abstract] Susann Stjernqvist, Tobias Rydén, Martin Sköld, and Johan Staaf (2007), "Continuous-index hidden Markov modelling of array CGH copy number data", Bioinformatics, 23: 1006-1014. [abstract] Barbara E Stranger, Matthew S Forrest, Mark Dunning, Catherine E Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine P Bird, Anna de Grassi, Charles Lee, Chris Tyler-Smith, Nigel Carter, Stephen W Scherer, Simon Tavaré, Panagiotis Deloukas, Matthew E Hurles, Emmanouil T Dermitzakis (2007), "Relative impact of nucleotide and copy number variation on gene expression phenotypes", Science, 315(5813):848-853. [abstract] Mark A Van de Wiel, Kyung In Kim, Sjoerd J Vosse, Wessel N van Wieringen, Saskia M. Wilting, and Bauke Ylstra (2007), "CGHcall: calling aberrations for array CGH tumor profiles", Bioinformatics, 23: 892-894. [abstract] ES Venkatraman and Adam B Olshen (2007), "A faster circular binary segmentation algorithm for the analysis of array CGH data", Bioinformatics, 23: 657-663. [abstract] Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan FA Grant, Hakon Hakonarson, and Maja Bucan (2007), "PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data", Genome Research, 17:1665-1674 [abstract] SJ White, LE Vissers, A Geurts van Kessel, RX de Menezes, E Kalay, AE Lehesjoki, PC Giordano, E van de Vosse, MH Breuning, HG Brunner, JT den Dunnen, JA Veltman (2007), "Variation of CNV distribution in five different ethnic populations", Cytogenetics and Genome Research, 118(1):19-30. K Wong, R deLeeuw, N Dosanjh, L Kimm, Z Cheng, D Horsman, C MacAulay, R Ng, C Brown, E Eichler (2007), "A comprehensive analysis of common copy-number variations in the human genome", American Journal of Human Genetics, 80(1):91-104. [html] B Xing, CMT Greenwood, SB Bull (2007), "A hierarchical clustering method for estimating copy number variation", Biostatistics, 8(3):632-653. [abstract] Y Yang, EK Chung, YL Wu, SL Savelli, HN Nagaraja, B Zhou, M Hebert, KN Jones, Y Shu, K Kitzmiller, CA Blanchong, KL McBride, GC Higgins, RM Rennebohm, RR Rice, KV Hackshaw, RA Roubey, JM Grossman, BP Tsao, DJ Birmingham, BH Rovin, LA Hebert, CY Yu (2007), "Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans", American Journal of Human Genetics, 80(6):1037-1054. [html] Jianzhi Zhang (2007), "The drifting human genome" (commentary), Proceedings of the National Academy of Sciences, 104(51):20147-20148. [html] [html] Nancy R Zhang, David O Siegmund (2007) "A modified Bayes information criterion with application to the analysis of comparative genomic hybridization data", Biometrics, 63(1):22-32. [ abstract] [PDF] X Zhao, A Leotta, V Kustanovich, C Lajonchere, DH Geschwind, K Law, P Law, S Qiu, C Lord, J Sebat, K Ye, M Wigler (2007), "A unified genetic theory for sporadic and inherited autism", Proceedings of the National Academy of Sciences, 104(31):12831-12836. [abstract] [html] George Zogopoulos, Kevin CH Ha, Faisal Naqib, Sara Moore, Hyeja Kim, Alexandre Montpetit, Frederick Robidoux, Philippe Laflamme, Michelle Cotterchio, Celia Greenwood, Stephen W Scherer, Brent Zanke, Thomas J Hudson, Gary D Bader, Steven Gallinger (2007) "Germ-line DNA copy number variation frequencies in a large North American population", Human Genetics, 122(3-4):345-353. [ abstract]