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Items: 1 to 20 of 224

1.

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.

Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M.

Genome Res. 2007 Nov;17(11):1665-74.

2.

Genome-wide algorithm for detecting CNV associations with diseases.

Xu Y, Peng B, Fu Y, Amos CI.

BMC Bioinformatics. 2011 Aug 9;12:331. doi: 10.1186/1471-2105-12-331.

3.

Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation.

Macconaill LE, Aldred MA, Lu X, Laframboise T.

BMC Genomics. 2007 Jul 3;8:211.

4.

A multi-array multi-SNP genotyping algorithm for Affymetrix SNP microarrays.

Xiao Y, Segal MR, Yang YH, Yeh RF.

Bioinformatics. 2007 Jun 15;23(12):1459-67.

5.

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.

Baross A, Delaney AD, Li HI, Nayar T, Flibotte S, Qian H, Chan SY, Asano J, Ally A, Cao M, Birch P, Brown-John M, Fernandes N, Go A, Kennedy G, Langlois S, Eydoux P, Friedman JM, Marra MA.

BMC Bioinformatics. 2007 Oct 2;8:368.

6.

Family-based association tests for genomewide association scans.

Chen WM, Abecasis GR.

Am J Hum Genet. 2007 Nov;81(5):913-26.

7.

Accuracy of genome-wide imputation of untyped markers and impacts on statistical power for association studies.

Hao K, Chudin E, McElwee J, Schadt EE.

BMC Genet. 2009 Jun 16;10:27. doi: 10.1186/1471-2156-10-27.

8.

Copy Number Variation Detection via High-Density SNP Genotyping.

Wang K, Bucan M.

CSH Protoc. 2008 Jun 1;2008:pdb.top46. doi: 10.1101/pdb.top46.

PMID:
21356857
9.

"GenotypeColour": colour visualisation of SNPs and CNVs.

Barlati S, Chiesa S, Magri C.

BMC Bioinformatics. 2009 Feb 4;10:49. doi: 10.1186/1471-2105-10-49.

10.

Copy number variations (CNVs) identified in Korean individuals.

Kang TW, Jeon YJ, Jang E, Kim HJ, Kim JH, Park JL, Lee S, Kim YS, Kim JY, Kim SY.

BMC Genomics. 2008 Oct 18;9:492. doi: 10.1186/1471-2164-9-492.

11.

Development and characterization of a high density SNP genotyping assay for cattle.

Matukumalli LK, Lawley CT, Schnabel RD, Taylor JF, Allan MF, Heaton MP, O'Connell J, Moore SS, Smith TP, Sonstegard TS, Van Tassell CP.

PLoS One. 2009;4(4):e5350. doi: 10.1371/journal.pone.0005350.

12.

Copy-number variation and association studies of human disease.

McCarroll SA, Altshuler DM.

Nat Genet. 2007 Jul;39(7 Suppl):S37-42. Review.

PMID:
17597780
13.

Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy.

Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD.

Ophthalmology. 2010 Jul;117(7):1306-12.e4. doi: 10.1016/j.ophtha.2009.11.021.

PMID:
20202685
14.

Software comparison for evaluating genomic copy number variation for Affymetrix 6.0 SNP array platform.

Eckel-Passow JE, Atkinson EJ, Maharjan S, Kardia SL, de Andrade M.

BMC Bioinformatics. 2011 May 31;12:220. doi: 10.1186/1471-2105-12-220.

15.

An integrative segmentation method for detecting germline copy number variations in SNP arrays.

Shi J, Li P.

Genet Epidemiol. 2012 May;36(4):373-83. doi: 10.1002/gepi.21631.

PMID:
22539397
16.

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.

PMID:
18368065
17.

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.

Coin LJ, Asher JE, Walters RG, Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AI.

Nat Methods. 2010 Jul;7(7):541-6. doi: 10.1038/nmeth.1466.

PMID:
20512141
18.

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.

McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, Rattenberry E, Steehouwer M, Moruz L, Pfundt R, de Leeuw N, Riess A, Altug-Teber O, Enders H, Singer S, Grasshoff U, Walter M, Walker JM, Lamb CV, Davison EV, Brueton L, Riess O, Veltman JA.

Hum Mutat. 2009 Jul;30(7):1082-92. doi: 10.1002/humu.21015.

PMID:
19388127
19.

Impact of whole genome amplification on analysis of copy number variants.

Pugh TJ, Delaney AD, Farnoud N, Flibotte S, Griffith M, Li HI, Qian H, Farinha P, Gascoyne RD, Marra MA.

Nucleic Acids Res. 2008 Aug;36(13):e80. doi: 10.1093/nar/gkn378.

20.

Hidden copy number variation in the HapMap population.

Marioni JC, White M, Tavaré S, Lynch AG.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10067-72. doi: 10.1073/pnas.0711252105.

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