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Items: 1 to 20 of 364

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.

2.

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.

3.

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.

4.

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.

5.

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.

6.

[DNA polymorphisms].

Suehiro Y, Furuya T, Sasaki K, Hinota Y.

Rinsho Byori. 2013 Nov;61(11):1001-7. Review. Japanese.

PMID:
24450105
7.

Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.

Doan R, Cohen ND, Sawyer J, Ghaffari N, Johnson CD, Dindot SV.

BMC Genomics. 2012 Feb 17;13:78. doi: 10.1186/1471-2164-13-78.

8.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.

Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108. Epub 2009 Jul 10.

9.

An initial comparative map of copy number variations in the goat (Capra hircus) genome.

Fontanesi L, Martelli PL, Beretti F, Riggio V, Dall'Olio S, Colombo M, Casadio R, Russo V, Portolano B.

BMC Genomics. 2010 Nov 17;11:639. doi: 10.1186/1471-2164-11-639.

10.

A highly annotated whole-genome sequence of a Korean individual.

Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, Kim HS, Chung IS, Lee WC, Lee JS, Seo SH, Yun JY, Woo HN, Lee H, Suh D, Lee S, Kim HJ, Yavartanoo M, Kwak M, Zheng Y, Lee MK, Park H, Kim JY, Gokcumen O, Mills RE, Zaranek AW, Thakuria J, Wu X, Kim RW, Huntley JJ, Luo S, Schroth GP, Wu TD, Kim H, Yang KS, Park WY, Kim H, Church GM, Lee C, Kingsmore SF, Seo JS.

Nature. 2009 Aug 20;460(7258):1011-5. doi: 10.1038/nature08211. Epub 2009 Jul 8.

11.

Sensitive and accurate detection of copy number variants using read depth of coverage.

Yoon S, Xuan Z, Makarov V, Ye K, Sebat J.

Genome Res. 2009 Sep;19(9):1586-92. doi: 10.1101/gr.092981.109. Epub 2009 Aug 5.

12.

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
13.

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
14.

Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping.

Zhan B, Fadista J, Thomsen B, Hedegaard J, Panitz F, Bendixen C.

BMC Genomics. 2011 Nov 14;12:557. doi: 10.1186/1471-2164-12-557.

15.

Strategies for the detection of copy number and other structural variants in the human genome.

Carson AR, Feuk L, Mohammed M, Scherer SW.

Hum Genomics. 2006 Jun;2(6):403-14. Review.

16.

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.

17.

Copy number variations in the genome of the Qatari population.

Fakhro KA, Yousri NA, Rodriguez-Flores JL, Robay A, Staudt MR, Agosto-Perez F, Salit J, Malek JA, Suhre K, Jayyousi A, Zirie M, Stadler D, Mezey JG, Crystal RG.

BMC Genomics. 2015 Oct 22;16:834. doi: 10.1186/s12864-015-1991-5.

18.

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

Valsesia A, Stevenson BJ, Waterworth D, Mooser V, Vollenweider P, Waeber G, Jongeneel CV, Beckmann JS, Kutalik Z, Bergmann S.

BMC Genomics. 2012 Jun 15;13:241. doi: 10.1186/1471-2164-13-241.

19.

Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.

Veerappa AM, Suresh RV, Vishweswaraiah S, Lingaiah K, Murthy M, Manjegowda DS, Padakannaya P, Ramachandra NB.

Genet Res (Camb). 2015 Sep 22;97:e18. doi: 10.1017/S0016672315000191.

PMID:
26390810
20.

Sequencing and annotated analysis of an Estonian human genome.

Lilleoja R, Sarapik A, Reimann E, Reemann P, Jaakma Ü, Vasar E, Kõks S.

Gene. 2012 Feb 1;493(1):69-76. doi: 10.1016/j.gene.2011.11.022. Epub 2011 Nov 27.

PMID:
22138481

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