Public data archives for genomic structural variation

被引：55

作者：

Church, Deanna M. ^{[1
]}

Lappalainen, Ilkka ^{[2
]}

Sneddon, Tam P. ^{[1
]}

Hinton, Jonathan ^{[2
]}

Maguire, Michael ^{[2
]}

Lopez, John ^{[1
]}

Garner, John ^{[1
]}

Paschall, Justin ^{[1
]}

DiCuccio, Michael ^{[1
]}

Yaschenko, Eugene ^{[1
]}

Scherer, Stephen W. ^{[3
,4
,5
]}

Feuk, Lars ^{[6
]}

Flicek, Paul ^{[2
]}

机构：

[1] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA

[2] European Bioinformat Inst, Cambridge, England

[3] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[4] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[6] Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden

来源：

NATURE GENETICS | 2010年 / 42卷 / 10期

关键词：

COPY-NUMBER; SEGMENTAL DUPLICATION;

D O I：

10.1038/ng1010-813

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：813 / 814

页数：2

共 15 条

[1] Personalized copy number and segmental duplication maps using next-generation sequencing [J].

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. .

NATURE GENETICS, 2009, 41 (10) :1061-U29

[2] Finishing the euchromatic sequence of the human genome [J].

Collins, FS ;

Lander, ES ;

Rogers, J ;

Waterston, RH .

NATURE, 2004, 431 (7011) :931-945

[3] New goals for the US Human Genome Project: 1998-2003 [J].

Collins, FS ;

Patrinos, A ;

Jordan, E ;

Chakravarti, A ;

Gesteland, R ;

Walters, L ;

Fearon, E ;

Hartwelt, L ;

Langley, CH ;

Mathies, RA ;

Olson, M ;

Pawson, AJ ;

Pollard, T ;

Williamson, A ;

Wold, B ;

Buetow, K ;

Branscomb, E ;

Capecchi, M ;

Church, G ;

Garner, H ;

Gibbs, RA ;

Hawkins, T ;

Hodgson, K ;

Knotek, M ;

Meisler, M ;

Rubin, GM ;

Smith, LM ;

Smith, RF ;

Westerfield, M ;

Clayton, EW ;

Fisher, NL ;

Lerman, CE ;

McInerney, JD ;

Nebo, W ;

Press, N ;

Valle, D .

SCIENCE, 1998, 282 (5389) :682-689

[4] Origins and functional impact of copy number variation in the human genome [J].

Conrad, Donald F. ;

Pinto, Dalila ;

Redon, Richard ;

Feuk, Lars ;

Gokcumen, Omer ;

Zhang, Yujun ;

Aerts, Jan ;

Andrews, T. Daniel ;

Barnes, Chris ;

Campbell, Peter ;

Fitzgerald, Tomas ;

Hu, Min ;

Ihm, Chun Hwa ;

Kristiansson, Kati ;

MacArthur, Daniel G. ;

MacDonald, Jeffrey R. ;

Onyiah, Ifejinelo ;

Pang, Andy Wing Chun ;

Robson, Sam ;

Stirrups, Kathy ;

Valsesia, Armand ;

Walter, Klaudia ;

Wei, John ;

Tyler-Smith, Chris ;

Carter, Nigel P. ;

Lee, Charles ;

Scherer, Stephen W. ;

Hurles, Matthew E. .

NATURE, 2010, 464 (7289) :704-712

[5] Completing the map of human genetic variation [J].

Eichler, Evan E. ;

Nickerson, Deborah A. ;

Altshuler, David ;

Bowcock, Anne M. ;

Brooks, Lisa D. ;

Carter, Nigel P. ;

Church, Deanna M. ;

Felsenfeld, Adam ;

Guyer, Mark ;

Lee, Charles ;

Lupski, James R. ;

Mullikin, James C. ;

Pritchard, Jonathan K. ;

Sebat, Jonathan ;

Sherry, Stephen T. ;

Smith, Douglas ;

Valle, David ;

Waterston, Robert H. .

NATURE, 2007, 447 (7141) :161-165

[6] Natural selection shapes genome-wide patterns of copy-number polymorphism in Drosophila melanogaster [J].

Emerson, J. J. ;

Cardoso-Moreira, Margarida ;

Borevitz, Justin O. ;

Long, Manyuan .

SCIENCE, 2008, 320 (5883) :1629-1631

[7] Structural variation in the human genome [J].

Feuk, L ;

Carson, AR ;

Scherer, SW .

NATURE REVIEWS GENETICS, 2006, 7 (02) :85-97

[8] Ensembl's 10th year [J].

Flicek, Paul ;

Aken, Bronwen L. ;

Ballester, Benoit ;

Beal, Kathryn ;

Bragin, Eugene ;

Brent, Simon ;

Chen, Yuan ;

Clapham, Peter ;

Coates, Guy ;

Fairley, Susan ;

Fitzgerald, Stephen ;

Fernandez-Banet, Julio ;

Gordon, Leo ;

Graef, Stefan ;

Haider, Syed ;

Hammond, Martin ;

Howe, Kerstin ;

Jenkinson, Andrew ;

Johnson, Nathan ;

Kaehaeri, Andreas ;

Keefe, Damian ;

Keenan, Stephen ;

Kinsella, Rhoda ;

Kokocinski, Felix ;

Koscielny, Gautier ;

Kulesha, Eugene ;

Lawson, Daniel ;

Longden, Ian ;

Massingham, Tim ;

McLaren, William ;

Megy, Karine ;

Overduin, Bert ;

Pritchard, Bethan ;

Rios, Daniel ;

Ruffier, Magali ;

Schuster, Michael ;

Slater, Guy ;

Smedley, Damian ;

Spudich, Giulietta ;

Tang, Y. Amy ;

Trevanion, Stephen ;

Vilella, Albert ;

Vogel, Jan ;

White, Simon ;

Wilder, Steven P. ;

Zadissa, Amonida ;

Birney, Ewan ;

Cunningham, Fiona ;

Dunham, Ian ;

Durbin, Richard .

NUCLEIC ACIDS RESEARCH, 2010, 38 :D557-D562

[9] Characterization of missing human genome sequences and copy-number polymorphic insertions [J].

Kidd, Jeffrey M. ;

Sampas, Nick ;

Antonacci, Francesca ;

Graves, Tina ;

Fulton, Robert ;

Hayden, Hillary S. ;

Alkan, Can ;

Malig, Maika ;

Ventura, Mario ;

Giannuzzi, Giuliana ;

Kallicki, Joelle ;

Anderson, Paige ;

Tsalenko, Anya ;

Yamada, N. Alice ;

Tsang, Peter ;

Kaul, Rajinder ;

Wilson, Richard K. ;

Bruhn, Laurakay ;

Eichler, Evan E. .

NATURE METHODS, 2010, 7 (05) :365-U47

[10] Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies [J].

Miller, David T. ;

Adam, Margaret P. ;

Aradhya, Swaroop ;

Biesecker, Leslie G. ;

Brothman, Arthur R. ;

Carter, Nigel P. ;

Church, Deanna M. ;

Crolla, John A. ;

Eichler, Evan E. ;

Epstein, Charles J. ;

Faucett, W. Andrew ;

Feuk, Lars ;

Friedman, Jan M. ;

Hamosh, Ada ;

Jackson, Laird ;

Kaminsky, Erin B. ;

Kok, Klaas ;

Krantz, Ian D. ;

Kuhn, Robert M. ;

Lee, Charles ;

Ostell, James M. ;

Rosenberg, Carla ;

Scherer, Stephen W. ;

Spinner, Nancy B. ;

Stavropoulos, Dimitri J. ;

Tepperberg, James H. ;

Thorland, Erik C. ;

Vermeesch, Joris R. ;

Waggoner, Darrel J. ;

Watson, Michael S. ;

Martin, Christa Lese ;

Ledbetter, David H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) :749-764

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