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Results: 1 to 20 of 106

1.

EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF.

Genome Biol. 2013;14(10):R120.

PMID:
24172663
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Detection of clinically relevant copy number variants with whole-exome sequencing.

de Ligt J, Boone PM, Pfundt R, Vissers LE, Richmond T, Geoghegan J, O'Moore K, de Leeuw N, Shaw C, Brunner HG, Lupski JR, Veltman JA, Hehir-Kwa JY.

Hum Mutat. 2013 Oct;34(10):1439-48. doi: 10.1002/humu.22387. Epub 2013 Aug 30.

PMID:
23893877
[PubMed - indexed for MEDLINE]
3.

Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with Tetralogy of Fallot.

Bansal V, Dorn C, Grunert M, Klaassen S, Hetzer R, Berger F, Sperling SR.

PLoS One. 2014 Jan 6;9(1):e85375. doi: 10.1371/journal.pone.0085375. eCollection 2014.

PMID:
24400131
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
21827692
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
22585873
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
23089826
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.

Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis ER, Ding L, Wilson RK.

Genome Res. 2012 Mar;22(3):568-76. doi: 10.1101/gr.129684.111. Epub 2012 Feb 2.

PMID:
22300766
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data.

Shi Y, Majewski J.

Bioinformatics. 2013 Jun 1;29(11):1461-2. doi: 10.1093/bioinformatics/btt151. Epub 2013 Mar 28.

PMID:
23539306
[PubMed - indexed for MEDLINE]
Free Article
9.

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.

PMID:
23040492
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

RUbioSeq: a suite of parallelized pipelines to automate exome variation and bisulfite-seq analyses.

Rubio-Camarillo M, Gómez-López G, Fernández JM, Valencia A, Pisano DG.

Bioinformatics. 2013 Jul 1;29(13):1687-9. doi: 10.1093/bioinformatics/btt203. Epub 2013 Apr 28.

PMID:
23630175
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
24555668
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Quantifying copy number variations using a hidden Markov model with inhomogeneous emission distributions.

McCallum KJ, Wang JP.

Biostatistics. 2013 Jul;14(3):600-11. doi: 10.1093/biostatistics/kxt003. Epub 2013 Feb 20.

PMID:
23428932
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
19908389
[PubMed - indexed for MEDLINE]
Free Article
14.

An integrative variant analysis suite for whole exome next-generation sequencing data.

Challis D, Yu J, Evani US, Jackson AR, Paithankar S, Coarfa C, Milosavljevic A, Gibbs RA, Yu F.

BMC Bioinformatics. 2012 Jan 12;13:8. doi: 10.1186/1471-2105-13-8.

PMID:
22239737
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

CoNVEX: copy number variation estimation in exome sequencing data using HMM.

Amarasinghe KC, Li J, Halgamuge SK.

BMC Bioinformatics. 2013;14 Suppl 2:S2. doi: 10.1186/1471-2105-14-S2-S2. Epub 2013 Jan 21.

PMID:
23368785
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A hidden Markov model for copy number variant prediction from whole genome resequencing data.

Shen Y, Gu Y, Pe'er I.

BMC Bioinformatics. 2011;12 Suppl 6:S4. doi: 10.1186/1471-2105-12-S6-S4. Epub 2011 Jul 28.

PMID:
21989326
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

CANOES: detecting rare copy number variants from whole exome sequencing data.

Backenroth D, Homsy J, Murillo LR, Glessner J, Lin E, Brueckner M, Lifton R, Goldmuntz E, Chung WK, Shen Y.

Nucleic Acids Res. 2014;42(12):e97. doi: 10.1093/nar/gku345. Epub 2014 Apr 25.

PMID:
24771342
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation.

Karimpour-Fard A, Dumas L, Phang T, Sikela JM, Hunter LE.

Hum Genomics. 2010 Aug;4(6):421-7. Review.

PMID:
20846932
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Copy number variation detection using next generation sequencing read counts.

Wang H, Nettleton D, Ying K.

BMC Bioinformatics. 2014 Apr 14;15:109. doi: 10.1186/1471-2105-15-109.

PMID:
24731174
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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.

PMID:
20132550
[PubMed - indexed for MEDLINE]
Free PMC Article

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