Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 583

1.

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.

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.

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.

4.

CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data.

Sinha R, Samaddar S, De RK.

PLoS One. 2015 Aug 20;10(8):e0135895. doi: 10.1371/journal.pone.0135895.

5.

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.

6.

Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping.

Zhan B, Fadista J, Thomsen B, Hedegaard J, Panitz F, Bendixen C.

BMC Genomics. 2011 Nov 14;12:557. doi: 10.1186/1471-2164-12-557.

7.

Detection and characterization of novel sequence insertions using paired-end next-generation sequencing.

Hajirasouliha I, Hormozdiari F, Alkan C, Kidd JM, Birol I, Eichler EE, Sahinalp SC.

Bioinformatics. 2010 May 15;26(10):1277-83. doi: 10.1093/bioinformatics/btq152.

8.

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.

9.

SInC: an accurate and fast error-model based simulator for SNPs, Indels and CNVs coupled with a read generator for short-read sequence data.

Pattnaik S, Gupta S, Rao AA, Panda B.

BMC Bioinformatics. 2014 Feb 5;15:40. doi: 10.1186/1471-2105-15-40.

10.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.

Genome Res. 2009 Sep;19(9):1682-90. doi: 10.1101/gr.083501.108.

11.

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.

12.

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.

Li Y, Zheng H, Luo R, Wu H, Zhu H, Li R, Cao H, Wu B, Huang S, Shao H, Ma H, Zhang F, Feng S, Zhang W, Du H, Tian G, Li J, Zhang X, Li S, Bolund L, Kristiansen K, de Smith AJ, Blakemore AI, Coin LJ, Yang H, Wang J, Wang J.

Nat Biotechnol. 2011 Jul 24;29(8):723-30. doi: 10.1038/nbt.1904.

PMID:
21785424
13.

Identification of recurrent regions of Copy-Number Variants across multiple individuals.

Mei TS, Salim A, Calza S, Seng KC, Seng CK, Pawitan Y.

BMC Bioinformatics. 2010 Mar 22;11:147. doi: 10.1186/1471-2105-11-147.

14.

Identification of genomic indels and structural variations using split reads.

Zhang ZD, Du J, Lam H, Abyzov A, Urban AE, Snyder M, Gerstein M.

BMC Genomics. 2011 Jul 25;12:375. doi: 10.1186/1471-2164-12-375.

15.

The sequence of the human genome.

Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigó R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A, Zhu X.

Science. 2001 Feb 16;291(5507):1304-51. Erratum in: Science 2001 Jun 5;292(5523):1838.

PMID:
11181995
16.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

Hum Mutat. 2008 Mar;29(3):398-408.

PMID:
18058796
17.

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

Qiao Y, Liu X, Harvard C, Nolin SL, Brown WT, Koochek M, Holden JJ, Lewis ME, Rajcan-Separovic E.

BMC Genomics. 2007 Jun 12;8:167.

18.

Genome-wide association analysis of copy number variations in subarachnoid aneurysmal hemorrhage.

Bae JS, Cheong HS, Park BL, Kim LH, Park TJ, Kim JY, Pasaje CF, Lee JS, Cui T, Inoue I, Shin HD.

J Hum Genet. 2010 Nov;55(11):726-30. doi: 10.1038/jhg.2010.97.

PMID:
20703242
19.

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.

20.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE.

Genome Res. 2009 Sep;19(9):1579-85. doi: 10.1101/gr.094987.109.

Items per page

Supplemental Content

Support Center