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Items: 1 to 20 of 209

1.

A computational framework discovers new copy number variants with functional importance.

Banerjee S, Oldridge D, Poptsova M, Hussain WM, Chakravarty D, Demichelis F.

PLoS One. 2011 Mar 29;6(3):e17539. doi: 10.1371/journal.pone.0017539.

2.

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.

3.

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.

4.

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.

5.

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.

6.

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.

7.

Identification of copy number variants from exome sequence data.

Samarakoon PS, Sorte HS, Kristiansen BE, Skodje T, Sheng Y, Tjønnfjord GE, Stadheim B, Stray-Pedersen A, Rødningen OK, Lyle R.

BMC Genomics. 2014 Aug 7;15:661. doi: 10.1186/1471-2164-15-661.

8.

Genome Wide Distributions and Functional Characterization of Copy Number Variations between Chinese and Western Pigs.

Wang H, Wang C, Yang K, Liu J, Zhang Y, Wang Y, Xu X, Michal JJ, Jiang Z, Liu B.

PLoS One. 2015 Jul 8;10(7):e0131522. doi: 10.1371/journal.pone.0131522. eCollection 2015.

9.

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.

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.

CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.

Onsongo G, Baughn LB, Bower M, Henzler C, Schomaker M, Silverstein KA, Thyagarajan B.

J Mol Diagn. 2016 Nov;18(6):872-881. doi: 10.1016/j.jmoldx.2016.07.001. Epub 2016 Sep 3.

PMID:
27597741
12.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059
13.

Copy number variation in Fayoumi and Leghorn chickens analyzed using array comparative genomic hybridization.

Abernathy J, Li X, Jia X, Chou W, Lamont SJ, Crooijmans R, Zhou H.

Anim Genet. 2014 Jun;45(3):400-11. doi: 10.1111/age.12141. Epub 2014 Mar 15.

PMID:
24628374
14.

Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort.

Moon S, Kim YJ, Hong CB, Kim DJ, Lee JY, Kim BJ.

Eur J Hum Genet. 2011 Nov;19(11):1167-72. doi: 10.1038/ejhg.2011.103. Epub 2011 Jul 6.

15.

BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN.

Kim D, Lucas A, Glessner J, Verma SS, Bradford Y, Li R, Frase AT, Hakonarson H, Peissig P, Brilliant M, Ritchie MD.

Pac Symp Biocomput. 2016;21:357-68.

16.

The fine-scale and complex architecture of human copy-number variation.

Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C.

Am J Hum Genet. 2008 Mar;82(3):685-95. doi: 10.1016/j.ajhg.2007.12.010. Epub 2008 Jan 24.

17.

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours.

Walker LC, Krause L; kConFab Investigators, Spurdle AB, Waddell N.

Breast Cancer Res Treat. 2012 Aug;134(3):1005-11. Epub 2012 Mar 21.

18.

Detection of copy number variation using SNP genotyping.

Cooper GM, Mefford HC.

Methods Mol Biol. 2011;767:243-52. doi: 10.1007/978-1-61779-201-4_18.

PMID:
21822880
19.

Detecting copy number variation with mated short reads.

Medvedev P, Fiume M, Dzamba M, Smith T, Brudno M.

Genome Res. 2010 Nov;20(11):1613-22. doi: 10.1101/gr.106344.110. Epub 2010 Aug 30.

20.

Towards a comprehensive structural variation map of an individual human genome.

Pang AW, MacDonald JR, Pinto D, Wei J, Rafiq MA, Conrad DF, Park H, Hurles ME, Lee C, Venter JC, Kirkness EF, Levy S, Feuk L, Scherer SW.

Genome Biol. 2010;11(5):R52. doi: 10.1186/gb-2010-11-5-r52. Epub 2010 May 19.

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