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Items: 1 to 20 of 267

1.

Effective normalization for copy number variation detection from whole genome sequencing.

Janevski A, Varadan V, Kamalakaran S, Banerjee N, Dimitrova N.

BMC Genomics. 2012;13 Suppl 6:S16. doi: 10.1186/1471-2164-13-S6-S16.

2.

Evaluation of somatic copy number estimation tools for whole-exome sequencing data.

Nam JY, Kim NK, Kim SC, Joung JG, Xi R, Lee S, Park PJ, Park WY.

Brief Bioinform. 2016 Mar;17(2):185-92. doi: 10.1093/bib/bbv055.

PMID:
26210357
3.

Read count approach for DNA copy number variants detection.

Magi A, Tattini L, Pippucci T, Torricelli F, Benelli M.

Bioinformatics. 2012 Feb 15;28(4):470-8. doi: 10.1093/bioinformatics/btr707.

4.

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.

5.

Statistical challenges associated with detecting copy number variations with next-generation sequencing.

Teo SM, Pawitan Y, Ku CS, Chia KS, Salim A.

Bioinformatics. 2012 Nov 1;28(21):2711-8. doi: 10.1093/bioinformatics/bts535. Review.

6.

CNV-seq, a new method to detect copy number variation using high-throughput sequencing.

Xie C, Tammi MT.

BMC Bioinformatics. 2009 Mar 6;10:80. doi: 10.1186/1471-2105-10-80.

7.

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.

8.

De novo detection of copy number variation by co-assembly.

Nijkamp JF, van den Broek MA, Geertman JM, Reinders MJ, Daran JM, de Ridder D.

Bioinformatics. 2012 Dec 15;28(24):3195-202. doi: 10.1093/bioinformatics/bts601.

9.

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data.

Boeva V, Popova T, Bleakley K, Chiche P, Cappo J, Schleiermacher G, Janoueix-Lerosey I, Delattre O, Barillot E.

Bioinformatics. 2012 Feb 1;28(3):423-5. doi: 10.1093/bioinformatics/btr670.

10.

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.

11.

Control-free calling of copy number alterations in deep-sequencing data using GC-content normalization.

Boeva V, Zinovyev A, Bleakley K, Vert JP, Janoueix-Lerosey I, Delattre O, Barillot E.

Bioinformatics. 2011 Jan 15;27(2):268-9. doi: 10.1093/bioinformatics/btq635.

12.

Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery.

Stothard P, Choi JW, Basu U, Sumner-Thomson JM, Meng Y, Liao X, Moore SS.

BMC Genomics. 2011 Nov 15;12:559. doi: 10.1186/1471-2164-12-559.

13.

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

Valsesia A, Stevenson BJ, Waterworth D, Mooser V, Vollenweider P, Waeber G, Jongeneel CV, Beckmann JS, Kutalik Z, Bergmann S.

BMC Genomics. 2012 Jun 15;13:241. doi: 10.1186/1471-2164-13-241.

14.

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

Hayes JL, Tzika A, Thygesen H, Berri S, Wood HM, Hewitt S, Pendlebury M, Coates A, Willoughby L, Watson CM, Rabbitts P, Roberts P, Taylor GR.

Genomics. 2013 Sep;102(3):174-81. doi: 10.1016/j.ygeno.2013.04.006.

15.

Modeling read counts for CNV detection in exome sequencing data.

Love MI, Myšičková A, Sun R, Kalscheuer V, Vingron M, Haas SA.

Stat Appl Genet Mol Biol. 2011 Nov 8;10(1). pii: /j/sagmb.2011.10.issue-1/1544-6115.1732/1544-6115.1732.xml. doi: 10.2202/1544-6115.1732.

16.

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.

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.

PMID:
20202685
18.

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.

19.

Shape-based retrieval of CNV regions in read coverage data.

Hong S, Yoon J, Hong D, Lee U, Kim B, Park S.

Int J Data Min Bioinform. 2014;9(3):254-76.

PMID:
25163168
20.

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.

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