Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 104

1.

HD-CNV: hotspot detector for copy number variants.

Butler JL, Osborne Locke ME, Hill KA, Daley M.

Bioinformatics. 2013 Jan 15;29(2):262-3. doi: 10.1093/bioinformatics/bts650. Epub 2012 Nov 4.

2.

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS.

BMC Bioinformatics. 2010 Feb 4;11:74. doi: 10.1186/1471-2105-11-74.

3.

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.

4.

CONAN: copy number variation analysis software for genome-wide association studies.

Forer L, Schönherr S, Weissensteiner H, Haider F, Kluckner T, Gieger C, Wichmann HE, Specht G, Kronenberg F, Kloss-Brandstätter A.

BMC Bioinformatics. 2010 Jun 14;11:318. doi: 10.1186/1471-2105-11-318.

5.

CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohorts.

Knierim E, Schwarz JM, Schuelke M, Seelow D.

J Med Genet. 2013 Aug;50(8):529-33. doi: 10.1136/jmedgenet-2012-101497. Epub 2013 May 31.

PMID:
23729504
6.

Genovar: a detection and visualization tool for genomic variants.

Jung KS, Moon S, Kim YJ, Kim BJ, Park K.

BMC Bioinformatics. 2012 May 8;13 Suppl 7:S12. doi: 10.1186/1471-2105-13-S7-S12.

7.

COKGEN: a software for the identification of rare copy number variation from SNP microarrays.

Yavaş G, Koyutürk M, Ozsoyoğlu M, Gould MP, Laframboise T.

Pac Symp Biocomput. 2010:371-82.

8.

Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser.

Raney BJ, Dreszer TR, Barber GP, Clawson H, Fujita PA, Wang T, Nguyen N, Paten B, Zweig AS, Karolchik D, Kent WJ.

Bioinformatics. 2014 Apr 1;30(7):1003-5. doi: 10.1093/bioinformatics/btt637. Epub 2013 Nov 13.

9.

Robust regression analysis of copy number variation data based on a univariate score.

Satten GA, Allen AS, Ikeda M, Mulle JG, Warren ST.

PLoS One. 2014 Feb 7;9(2):e86272. doi: 10.1371/journal.pone.0086272. eCollection 2014.

10.

A novel signal processing approach for the detection of copy number variations in the human genome.

Stamoulis C, Betensky RA.

Bioinformatics. 2011 Sep 1;27(17):2338-45. doi: 10.1093/bioinformatics/btr402. Epub 2011 Jul 12. Erratum in: Bioinformatics. 2012 May 1;28(9):1297.

11.

CNVRuler: a copy number variation-based case-control association analysis tool.

Kim JH, Hu HJ, Yim SH, Bae JS, Kim SY, Chung YJ.

Bioinformatics. 2012 Jul 1;28(13):1790-2. doi: 10.1093/bioinformatics/bts239. Epub 2012 Apr 25.

12.

CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.

Alonso A, Julià A, Tortosa R, Canaleta C, Cañete JD, Ballina J, Balsa A, Tornero J, Marsal S.

BMC Bioinformatics. 2010 May 19;11:264. doi: 10.1186/1471-2105-11-264.

13.

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.

14.

A multi-sample based method for identifying common CNVs in normal human genomic structure using high-resolution aCGH data.

Park C, Ahn J, Yoon Y, Park S.

PLoS One. 2011;6(10):e26975. doi: 10.1371/journal.pone.0026975. Epub 2011 Oct 31.

15.

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. Epub 2010 Mar 3.

PMID:
20202685
16.

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.

17.

The UCSC Genome Browser database: extensions and updates 2013.

Meyer LR, Zweig AS, Hinrichs AS, Karolchik D, Kuhn RM, Wong M, Sloan CA, Rosenbloom KR, Roe G, Rhead B, Raney BJ, Pohl A, Malladi VS, Li CH, Lee BT, Learned K, Kirkup V, Hsu F, Heitner S, Harte RA, Haeussler M, Guruvadoo L, Goldman M, Giardine BM, Fujita PA, Dreszer TR, Diekhans M, Cline MS, Clawson H, Barber GP, Haussler D, Kent WJ.

Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9. doi: 10.1093/nar/gks1048. Epub 2012 Nov 15.

18.

CNVannotator: a comprehensive annotation server for copy number variation in the human genome.

Zhao M, Zhao Z.

PLoS One. 2013 Nov 14;8(11):e80170. doi: 10.1371/journal.pone.0080170. eCollection 2013.

19.

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
20.

Identification of copy number variation hotspots in human populations.

Fu W, Zhang F, Wang Y, Gu X, Jin L.

Am J Hum Genet. 2010 Oct 8;87(4):494-504. doi: 10.1016/j.ajhg.2010.09.006.

Items per page

Supplemental Content

Write to the Help Desk