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Items: 1 to 20 of 121

1.

Using family data as a verification standard to evaluate copy number variation calling strategies for genetic association studies.

Zheng X, Shaffer JR, McHugh CP, Laurie CC, Feenstra B, Melbye M, Murray JC, Marazita ML, Feingold E.

Genet Epidemiol. 2012 Apr;36(3):253-62. doi: 10.1002/gepi.21618.

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.

4.

Inheritance model introduces differential bias in CNV calls between parents and offspring.

Kim S, Millard SP, Yu CE, Leong L, Radant A, Dobie D, Tsuang DW, Wijsman EM.

Genet Epidemiol. 2012 Jul;36(5):488-98. doi: 10.1002/gepi.21643.

5.

Accuracy of CNV Detection from GWAS Data.

Zhang D, Qian Y, Akula N, Alliey-Rodriguez N, Tang J; Bipolar Genome Study., Gershon ES, Liu C.

PLoS One. 2011 Jan 13;6(1):e14511. doi: 10.1371/journal.pone.0014511.

6.

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.

Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD, Al-Chalabi A.

PLoS One. 2009 Dec 4;4(12):e8175. doi: 10.1371/journal.pone.0008175.

7.

Evaluation of copy number variation detection for a SNP array platform.

Zhang X, Du R, Li S, Zhang F, Jin L, Wang H.

BMC Bioinformatics. 2014 Feb 21;15:50. doi: 10.1186/1471-2105-15-50.

8.

Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data.

Kim SY, Kim JH, Chung YJ.

Genomics Inform. 2012 Sep;10(3):194-9. doi: 10.5808/GI.2012.10.3.194.

9.

The effect of algorithms on copy number variant detection.

Tsuang DW, Millard SP, Ely B, Chi P, Wang K, Raskind WH, Kim S, Brkanac Z, Yu CE.

PLoS One. 2010 Dec 30;5(12):e14456. doi: 10.1371/journal.pone.0014456.

10.

Assessing the reproducibility of exome copy number variations predictions.

Hong CS, Singh LN, Mullikin JC, Biesecker LG.

Genome Med. 2016 Aug 8;8(1):82. doi: 10.1186/s13073-016-0336-6.

11.

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
12.

Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.

Castellani CA, Melka MG, Wishart AE, Locke ME, Awamleh Z, O'Reilly RL, Singh SM.

BMC Bioinformatics. 2014 Apr 21;15:114. doi: 10.1186/1471-2105-15-114.

13.

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.

Marenne G, Rodríguez-Santiago B, Closas MG, Pérez-Jurado L, Rothman N, Rico D, Pita G, Pisano DG, Kogevinas M, Silverman DT, Valencia A, Real FX, Chanock SJ, Génin E, Malats N.

Hum Mutat. 2011 Feb;32(2):240-8. doi: 10.1002/humu.21398.

14.

The impact of errors in copy number variation detection algorithms on association results.

Wineinger NE, Tiwari HK.

PLoS One. 2012;7(4):e32396. doi: 10.1371/journal.pone.0032396.

15.

Analyzing copy number variation using SNP array data: protocols for calling CNV and association tests.

Lin CF, Naj AC, Wang LS.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 1.27.. doi: 10.1002/0471142905.hg0127s79.

16.

Family-Based Benchmarking of Copy Number Variation Detection Software.

Nutsua ME, Fischer A, Nebel A, Hofmann S, Schreiber S, Krawczak M, Nothnagel M.

PLoS One. 2015 Jul 21;10(7):e0133465. doi: 10.1371/journal.pone.0133465.

17.

Copy number variation genotyping using family information.

Chu JH, Rogers A, Ionita-Laza I, Darvishi K, Mills RE, Lee C, Raby BA.

BMC Bioinformatics. 2013 May 9;14:157. doi: 10.1186/1471-2105-14-157.

18.

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.

19.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.

Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L.

Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852.

20.

Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample.

Degenhardt F, Priebe L, Herms S, Mattheisen M, Mühleisen TW, Meier S, Moebus S, Strohmaier J, Groß M, Breuer R, Lange C, Hoffmann P, Meyer-Lindenberg A, Heinz A, Walter H, Lucae S, Wolf C, Müller-Myhsok B, Holsboer F, Maier W, Rietschel M, Nöthen MM, Cichon S.

Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):263-73. doi: 10.1002/ajmg.b.32034.

PMID:
22344817

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