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Results: 1 to 20 of 487

1.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

PMID:
20482838
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.

Shen F, Huang J, Fitch KR, Truong VB, Kirby A, Chen W, Zhang J, Liu G, McCarroll SA, Jones KW, Shapero MH.

BMC Genet. 2008 Mar 28;9:27. doi: 10.1186/1471-2156-9-27.

PMID:
18373861
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO.

PLoS Comput Biol. 2010 Nov 11;6(11):e1000988. doi: 10.1371/journal.pcbi.1000988.

PMID:
21085617
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The complete genome of an individual by massively parallel DNA sequencing.

Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM.

Nature. 2008 Apr 17;452(7189):872-6. doi: 10.1038/nature06884.

PMID:
18421352
[PubMed - indexed for MEDLINE]
5.

Genome-wide mapping of copy number variation in humans: comparative analysis of high resolution array platforms.

Haraksingh RR, Abyzov A, Gerstein M, Urban AE, Snyder M.

PLoS One. 2011;6(11):e27859. doi: 10.1371/journal.pone.0027859. Epub 2011 Nov 30.

PMID:
22140474
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Application of Nexus copy number software for CNV detection and analysis.

Darvishi K.

Curr Protoc Hum Genet. 2010 Apr;Chapter 4:Unit 4.14.1-28. doi: 10.1002/0471142905.hg0414s65.

PMID:
20373515
[PubMed - indexed for MEDLINE]
7.

Genome assembly comparison identifies structural variants in the human genome.

Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L.

Nat Genet. 2006 Dec;38(12):1413-8. Epub 2006 Nov 22.

PMID:
17115057
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The diploid genome sequence of an individual human.

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC.

PLoS Biol. 2007 Sep 4;5(10):e254.

PMID:
17803354
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Pharmacogenetics: technologies to detect copy number variations.

Dhawan D, Padh H.

Curr Opin Mol Ther. 2009 Dec;11(6):670-80. Review.

PMID:
20072944
[PubMed - indexed for MEDLINE]
10.

[Structural variation in the human genome contributes to variation of traits].

Barøy T, Misceo D, Frengen E.

Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Review. Norwegian.

PMID:
18787571
[PubMed - indexed for MEDLINE]
Free Article
11.

Comprehensive characterization of human genome variation by high coverage whole-genome sequencing of forty four Caucasians.

Shen H, Li J, Zhang J, Xu C, Jiang Y, Wu Z, Zhao F, Liao L, Chen J, Lin Y, Tian Q, Papasian CJ, Deng HW.

PLoS One. 2013;8(4):e59494. doi: 10.1371/journal.pone.0059494. Epub 2013 Apr 5.

PMID:
23577066
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Detection of copy number variation using SNP genotyping.

Cooper GM, Mefford HC.

Methods Mol Biol. 2011;767:243-52. doi: 10.1007/978-1-61779-201-4_18.

PMID:
21822880
[PubMed - indexed for MEDLINE]
13.

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.

Lin CH, Lin YC, Wu JY, Pan WH, Chen YT, Fann CS.

Genomics. 2009 Oct;94(4):241-6. doi: 10.1016/j.ygeno.2009.06.004. Epub 2009 Jun 25.

PMID:
19559783
[PubMed - indexed for MEDLINE]
Free Article
14.

Structural variants: changing the landscape of chromosomes and design of disease studies.

Feuk L, Marshall CR, Wintle RF, Scherer SW.

Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.

PMID:
16651370
[PubMed - indexed for MEDLINE]
Free Article
15.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

Hum Mutat. 2008 Mar;29(3):398-408.

PMID:
18058796
[PubMed - indexed for MEDLINE]
16.

Structural variation in the human genome.

Feuk L, Carson AR, Scherer SW.

Nat Rev Genet. 2006 Feb;7(2):85-97. Review.

PMID:
16418744
[PubMed - indexed for MEDLINE]
17.

Fine-scale structural variation of the human genome.

Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE.

Nat Genet. 2005 Jul;37(7):727-32. Epub 2005 May 15.

PMID:
15895083
[PubMed - indexed for MEDLINE]
18.

Copy number variations associated with idiopathic autism identified by whole-genome microarray-based comparative genomic hybridization.

Cho SC, Yim SH, Yoo HK, Kim MY, Jung GY, Shin GW, Kim BN, Hwang JW, Kang JJ, Kim TM, Chung YJ.

Psychiatr Genet. 2009 Aug;19(4):177-85. doi: 10.1097/YPG.0b013e32832bdafa.

PMID:
19407672
[PubMed - indexed for MEDLINE]
19.

The sequence of the human genome.

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X.

Science. 2001 Feb 16;291(5507):1304-51. Erratum in: Science 2001 Jun 5;292(5523):1838.

PMID:
11181995
[PubMed - indexed for MEDLINE]
20.

Comprehensive DNA copy number profile and BAC library construction of an Indian individual.

Chakrabarty S, D'Souza RR, Bellampalli R, Rotti H, Saadi AV, Gopinath PM, Acharya RV, Govindaraj P, Thangaraj K, Satyamoorthy K.

Gene. 2012 Jun 1;500(2):186-93. doi: 10.1016/j.gene.2012.03.054. Epub 2012 Mar 21.

PMID:
22465536
[PubMed - indexed for MEDLINE]

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