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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.


The Performance of Whole Genome Amplification Methods and Next-Generation Sequencing for Pre-Implantation Genetic Diagnosis of Chromosomal Abnormalities.

Li N, Wang L, Wang H, Ma M, Wang X, Li Y, Zhang W, Zhang J, Cram DS, Yao Y.

J Genet Genomics. 2015 Apr 20;42(4):151-9. doi: 10.1016/j.jgg.2015.03.001. Epub 2015 Mar 14.


A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing.

Chen S, Lau TK, Zhang C, Xu C, Xu Z, Hu P, Xu J, Huang H, Pan L, Jiang F, Chen F, Pan X, Xie W, Liu P, Li X, Zhang L, Li S, Li Y, Xu X, Wang W, Wang J, Jiang H, Zhang X.

Prenat Diagn. 2013 Jun;33(6):584-90. doi: 10.1002/pd.4110.


Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion.

Xi R, Hadjipanayis AG, Luquette LJ, Kim TM, Lee E, Zhang J, Johnson MD, Muzny DM, Wheeler DA, Gibbs RA, Kucherlapati R, Park PJ.

Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1128-36. doi: 10.1073/pnas.1110574108. Epub 2011 Nov 7.


Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing.

Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, Kim S, Lee S, Suh D, Hong D, Kang HP, Yoo YJ, Shin JY, Kim HJ, Yavartanoo M, Chang YW, Ha JS, Chong W, Hwang GR, Darvishi K, Kim H, Yang SJ, Yang KS, Kim H, Hurles ME, Scherer SW, Carter NP, Tyler-Smith C, Lee C, Seo JS.

Nat Genet. 2010 May;42(5):400-5. doi: 10.1038/ng.555. Epub 2010 Apr 4.


Genome-wide detection of single-nucleotide and copy-number variations of a single human cell.

Zong C, Lu S, Chapman AR, Xie XS.

Science. 2012 Dec 21;338(6114):1622-6. doi: 10.1126/science.1229164.


PSCC: sensitive and reliable population-scale copy number variation detection method based on low coverage sequencing.

Li X, Chen S, Xie W, Vogel I, Choy KW, Chen F, Christensen R, Zhang C, Ge H, Jiang H, Yu C, Huang F, Wang W, Jiang H, Zhang X.

PLoS One. 2014 Jan 21;9(1):e85096. doi: 10.1371/journal.pone.0085096. eCollection 2014.


Quantitative assessment of single-cell whole genome amplification methods for detecting copy number variation using hippocampal neurons.

Ning L, Li Z, Wang G, Hu W, Hou Q, Tong Y, Zhang M, Chen Y, Qin L, Chen X, Man HY, Liu P, He J.

Sci Rep. 2015 Jun 19;5:11415. doi: 10.1038/srep11415.


The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.

Przybytkowski E, Ferrario C, Basik M.

BMC Med Genomics. 2011 Jan 27;4:16. doi: 10.1186/1755-8794-4-16.


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.


A new workflow for whole-genome sequencing of single human cells.

Binder V, Bartenhagen C, Okpanyi V, Gombert M, Moehlendick B, Behrens B, Klein HU, Rieder H, Ida Krell PF, Dugas M, Stoecklein NH, Borkhardt A.

Hum Mutat. 2014 Oct;35(10):1260-70. doi: 10.1002/humu.22625. Epub 2014 Aug 18.


Uniform and accurate single-cell sequencing based on emulsion whole-genome amplification.

Fu Y, Li C, Lu S, Zhou W, Tang F, Xie XS, Huang Y.

Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):11923-8. doi: 10.1073/pnas.1513988112. Epub 2015 Sep 4.


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. Epub 2012 Aug 31. Review.


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.


Microfluidic whole genome amplification device for single cell sequencing.

Yu Z, Lu S, Huang Y.

Anal Chem. 2014 Oct 7;86(19):9386-90. doi: 10.1021/ac5032176. Epub 2014 Sep 22.


Reference-unbiased copy number variant analysis using CGH microarrays.

Ju YS, Hong D, Kim S, Park SS, Kim S, Lee S, Park H, Kim JI, Seo JS.

Nucleic Acids Res. 2010 Nov;38(20):e190. doi: 10.1093/nar/gkq730. Epub 2010 Aug 27.


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.


Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts.

Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, Chen F, Chen S, Zhang C, Pan X, Gong C, Li X, Lin C, Gao Y, Liang Y, Yi X, Mu F, Zhao L, Peng H, Xiong B, Zhang S, Cheng D, Lu G, Zhang X, Lin G, Wang W.

Biol Reprod. 2013 Mar 21;88(3):69. doi: 10.1095/biolreprod.112.106211. Print 2013 Mar.


Massively parallel sequencing approaches for characterization of structural variation.

Koboldt DC, Larson DE, Chen K, Ding L, Wilson RK.

Methods Mol Biol. 2012;838:369-84. doi: 10.1007/978-1-61779-507-7_18. Review.


Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

Liang D, Peng Y, Lv W, Deng L, Zhang Y, Li H, Yang P, Zhang J, Song Z, Xu G, Cram DS, Wu L.

J Mol Diagn. 2014 Sep;16(5):519-26. doi: 10.1016/j.jmoldx.2014.05.002. Epub 2014 Jul 3.

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