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Items: 1 to 20 of 121

1.

Quantitative analysis of single nucleotide polymorphisms within copy number variation.

Lee S, Kasif S, Weng Z, Cantor CR.

PLoS One. 2008;3(12):e3906. doi: 10.1371/journal.pone.0003906. Epub 2008 Dec 18.

2.
3.

Detection of genotyping errors by Hardy-Weinberg equilibrium testing.

Hosking L, Lumsden S, Lewis K, Yeo A, McCarthy L, Bansal A, Riley J, Purvis I, Xu CF.

Eur J Hum Genet. 2004 May;12(5):395-9.

4.

What SNP genotyping errors are most costly for genetic association studies?

Kang SJ, Gordon D, Finch SJ.

Genet Epidemiol. 2004 Feb;26(2):132-41.

PMID:
14748013
5.

Analysis of copy loss and gain variations in Holstein cattle autosomes using BeadChip SNPs.

Seroussi E, Glick G, Shirak A, Yakobson E, Weller JI, Ezra E, Zeron Y.

BMC Genomics. 2010 Nov 29;11:673. doi: 10.1186/1471-2164-11-673.

7.

Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants.

Marenne G, Chanock SJ, Malats N, Génin E.

PLoS One. 2013 Sep 10;8(9):e75350. doi: 10.1371/journal.pone.0075350. eCollection 2013.

8.

Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium.

Attia J, Thakkinstian A, McElduff P, Milne E, Dawson S, Scott RJ, Klerk Nd, Armstrong B, Thompson J.

Stat Appl Genet Mol Biol. 2010;9:Article 5. doi: 10.2202/1544-6115.1463. Epub 2010 Jan 6.

PMID:
20196755
9.

Exact tests of Hardy-Weinberg equilibrium and homogeneity of disequilibrium across strata.

Schaid DJ, Batzler AJ, Jenkins GD, Hildebrandt MA.

Am J Hum Genet. 2006 Dec;79(6):1071-80. Epub 2006 Nov 3.

10.

Population-genetic nature of copy number variations in the human genome.

Kato M, Kawaguchi T, Ishikawa S, Umeda T, Nakamichi R, Shapero MH, Jones KW, Nakamura Y, Aburatani H, Tsunoda T.

Hum Mol Genet. 2010 Mar 1;19(5):761-73. doi: 10.1093/hmg/ddp541. Epub 2009 Dec 5.

11.

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.

Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE.

Am J Hum Genet. 2006 Aug;79(2):275-90. Epub 2006 Jun 15.

12.

Hardy weinberg expectations in canine breeds: implications for genetic studies.

Short AD, Kennedy LJ, Barnes A, Fretwell N, Jones C, Thomson W, Ollier WE.

J Hered. 2007;98(5):445-51. Epub 2007 May 26.

PMID:
17526918
13.

Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications.

Schrider DR, Hahn MW.

Mol Biol Evol. 2010 Jan;27(1):103-11. doi: 10.1093/molbev/msp210.

14.

Global variation in copy number in the human genome.

Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME.

Nature. 2006 Nov 23;444(7118):444-54.

15.

Integrated detection and population-genetic analysis of SNPs and copy number variation.

McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PI, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D.

Nat Genet. 2008 Oct;40(10):1166-74. doi: 10.1038/ng.238. Epub 2008 Sep 7.

PMID:
18776908
16.

Genotype, haplotype and copy-number variation in worldwide human populations.

Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB.

Nature. 2008 Feb 21;451(7181):998-1003. doi: 10.1038/nature06742.

17.

How to link call rate and p-values for Hardy-Weinberg equilibrium as measures of genome-wide SNP data quality.

Finner H, Strassburger K, Heid IM, Herder C, Rathmann W, Giani G, Dickhaus T, Lichtner P, Meitinger T, Wichmann HE, Illig T, Gieger C.

Stat Med. 2010 Sep 30;29(22):2347-58. doi: 10.1002/sim.4004.

PMID:
20641143
18.

Population structure in copy number variation and SNPs in the CCL4L chemokine gene.

Colobran R, Comas D, Faner R, Pedrosa E, Anglada R, Pujol-Borrell R, Bertranpetit J, Juan M.

Genes Immun. 2008 Jun;9(4):279-88. doi: 10.1038/gene.2008.15. Epub 2008 Mar 27.

PMID:
18368065
19.

Relative impact of nucleotide and copy number variation on gene expression phenotypes.

Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET.

Science. 2007 Feb 9;315(5813):848-53.

20.

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