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Items: 1 to 20 of 206

1.

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing.

Abyzov A, Urban AE, Snyder M, Gerstein M.

Genome Res. 2011 Jun;21(6):974-84. doi: 10.1101/gr.114876.110. Epub 2011 Feb 7.

2.

Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.

Legault MA, Girard S, Lemieux Perreault LP, Rouleau GA, Dubé MP.

PLoS One. 2015 Mar 26;10(3):e0122287. doi: 10.1371/journal.pone.0122287. eCollection 2015.

3.

CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data.

Sinha R, Samaddar S, De RK.

PLoS One. 2015 Aug 20;10(8):e0135895. doi: 10.1371/journal.pone.0135895. eCollection 2015.

4.

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants.

Smith SD, Kawash JK, Grigoriev A.

PeerJ. 2015 Mar 17;3:e836. doi: 10.7717/peerj.836. eCollection 2015.

5.

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. eCollection 2015.

6.

Parametric modeling of whole-genome sequencing data for CNV identification.

Vardhanabhuti S, Jeng XJ, Wu Y, Li H.

Biostatistics. 2014 Jul;15(3):427-41. doi: 10.1093/biostatistics/kxt060. Epub 2014 Jan 28.

7.

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.

8.

CNV-TV: a robust method to discover copy number variation from short sequencing reads.

Duan J, Zhang JG, Deng HW, Wang YP.

BMC Bioinformatics. 2013 May 2;14:150. doi: 10.1186/1471-2105-14-150.

9.

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.

10.

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.

11.

A single cell level based method for copy number variation analysis by low coverage massively parallel sequencing.

Zhang C, Zhang C, Chen S, Yin X, Pan X, Lin G, Tan Y, Tan K, Xu Z, Hu P, Li X, Chen F, Xu X, Li Y, Zhang X, Jiang H, Wang W.

PLoS One. 2013;8(1):e54236. doi: 10.1371/journal.pone.0054236. Epub 2013 Jan 23.

12.

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.

13.

Haplotype phasing and inheritance of copy number variants in nuclear families.

Palta P, Kaplinski L, Nagirnaja L, Veidenberg A, Möls M, Nelis M, Esko T, Metspalu A, Laan M, Remm M.

PLoS One. 2015 Apr 8;10(4):e0122713. doi: 10.1371/journal.pone.0122713. eCollection 2015.

14.

cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate.

Klambauer G, Schwarzbauer K, Mayr A, Clevert DA, Mitterecker A, Bodenhofer U, Hochreiter S.

Nucleic Acids Res. 2012 May;40(9):e69. doi: 10.1093/nar/gks003. Epub 2012 Feb 1.

15.

CNVeM: copy number variation detection using uncertainty of read mapping.

Wang Z, Hormozdiari F, Yang WY, Halperin E, Eskin E.

J Comput Biol. 2013 Mar;20(3):224-36. doi: 10.1089/cmb.2012.0258. Epub 2013 Feb 19.

16.

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.

Fromer M, Moran JL, Chambert K, Banks E, Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G, Sullivan PF, Hultman CM, Sklar P, Purcell SM.

Am J Hum Genet. 2012 Oct 5;91(4):597-607. doi: 10.1016/j.ajhg.2012.08.005.

17.

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
18.

Copy number variation detection and genotyping from exome sequence data.

Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project, Quinlan AR, Nickerson DA, Eichler EE.

Genome Res. 2012 Aug;22(8):1525-32. doi: 10.1101/gr.138115.112. Epub 2012 May 14.

19.

High resolution discovery and confirmation of copy number variants in 90 Yoruba Nigerians.

Matsuzaki H, Wang PH, Hu J, Rava R, Fu GK.

Genome Biol. 2009;10(11):R125. doi: 10.1186/gb-2009-10-11-r125. Epub 2009 Nov 9.

20.

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.

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