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Results: 1 to 20 of 110

1.

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation.

Valsesia A, Macé A, Jacquemont S, Beckmann JS, Kutalik Z.

Front Genet. 2013 May 30;4:92. doi: 10.3389/fgene.2013.00092. eCollection 2013.

PMID:
23750167
[PubMed]
Free PMC Article
2.

Implications of gene copy-number variation in health and diseases.

Almal SH, Padh H.

J Hum Genet. 2012 Jan;57(1):6-13. doi: 10.1038/jhg.2011.108. Epub 2011 Sep 29. Review.

PMID:
21956041
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
22702538
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Computational methods for detecting copy number variations in cancer genome using next generation sequencing: principles and challenges.

Liu B, Morrison CD, Johnson CS, Trump DL, Qin M, Conroy JC, Wang J, Liu S.

Oncotarget. 2013 Nov;4(11):1868-81. Review.

PMID:
24240121
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
21479260
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Copy number variation and susceptibility to human disorders (Review).

Shastry BS.

Mol Med Rep. 2009 Mar-Apr;2(2):143-7. doi: 10.3892/mmr_00000074.

PMID:
21475803
[PubMed]
7.

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.

PMID:
21209939
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Detection and characterization of copy number variation in autism spectrum disorder.

Marshall CR, Scherer SW.

Methods Mol Biol. 2012;838:115-35. doi: 10.1007/978-1-61779-507-7_5. Review.

PMID:
22228009
[PubMed - indexed for MEDLINE]
9.

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.

Shen F, Huang J, Fitch KR, Truong VB, Kirby A, Chen W, Zhang J, Liu G, McCarroll SA, Jones KW, Shapero MH.

BMC Genet. 2008 Mar 28;9:27. doi: 10.1186/1471-2156-9-27.

PMID:
18373861
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

[Copy number variations in the human genome: their mutational mechanisms and roles in diseases].

Du RQ, Jin L, Zhang F.

Yi Chuan. 2011 Aug;33(8):857-69. Review. Chinese.

PMID:
21831802
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
22140474
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
23634703
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
19657104
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.

Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV.

Hum Mol Genet. 2012 Oct 15;21(R1):R37-44. Epub 2012 Sep 8. Review.

PMID:
22962312
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The clinical context of copy number variation in the human genome.

Lee C, Scherer SW.

Expert Rev Mol Med. 2010 Mar 9;12:e8. doi: 10.1017/S1462399410001390. Review.

PMID:
20211047
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
21085617
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia.

Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T.

Cytogenet Genome Res. 2011;135(3-4):228-40. doi: 10.1159/000334064. Epub 2011 Nov 12. Review.

PMID:
22085975
[PubMed - indexed for MEDLINE]
18.

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits.

Chen C, Qiao R, Wei R, Guo Y, Ai H, Ma J, Ren J, Huang L.

BMC Genomics. 2012 Dec 27;13:733. doi: 10.1186/1471-2164-13-733.

PMID:
23270433
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR.

J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17.

PMID:
19015223
[PubMed - indexed for MEDLINE]
20.

Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.

Schlattl A, Anders S, Waszak SM, Huber W, Korbel JO.

Genome Res. 2011 Dec;21(12):2004-13. doi: 10.1101/gr.122614.111. Epub 2011 Aug 23.

PMID:
21862627
[PubMed - indexed for MEDLINE]
Free PMC Article

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