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Results: 1 to 20 of 36

1.

Diversity of human copy number variation and multicopy genes.

Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project, Eichler EE.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

PMID:
21030649
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Discovery of mutations in Saccharomyces cerevisiae by pooled linkage analysis and whole-genome sequencing.

Birkeland SR, Jin N, Ozdemir AC, Lyons RH Jr, Weisman LS, Wilson TE.

Genetics. 2010 Dec;186(4):1127-37. doi: 10.1534/genetics.110.123232. Epub 2010 Oct 5.

PMID:
20923977
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

SnapShot: Nonhomologous DNA end joining (NHEJ).

Lieber MR, Wilson TE.

Cell. 2010 Aug 6;142(3):496-496.e1. doi: 10.1016/j.cell.2010.07.035. No abstract available.

PMID:
20691907
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
20482838
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PMID:
20466091
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
20364138
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.

Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.

PMID:
20364136
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P.

Nature. 2010 Apr 1;464(7289):713-20. doi: 10.1038/nature08979.

PMID:
20360734
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4-ligase IV during chromosomal translocation formation.

Simsek D, Jasin M.

Nat Struct Mol Biol. 2010 Apr;17(4):410-6. doi: 10.1038/nsmb.1773. Epub 2010 Mar 7.

PMID:
20208544
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

The mechanism of double-strand DNA break repair by the nonhomologous DNA end-joining pathway.

Lieber MR.

Annu Rev Biochem. 2010;79:181-211. doi: 10.1146/annurev.biochem.052308.093131. Review.

PMID:
20192759
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Signatures of mutation and selection in the cancer genome.

Bignell GR, Greenman CD, Davies H, Butler AP, Edkins S, Andrews JM, Buck G, Chen L, Beare D, Latimer C, Widaa S, Hinton J, Fahey C, Fu B, Swamy S, Dalgliesh GL, Teh BT, Deloukas P, Yang F, Campbell PJ, Futreal PA, Stratton MR.

Nature. 2010 Feb 18;463(7283):893-8. doi: 10.1038/nature08768.

PMID:
20164919
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Genome destabilization by homologous recombination in the germ line.

Sasaki M, Lange J, Keeney S.

Nat Rev Mol Cell Biol. 2010 Mar;11(3):182-95. doi: 10.1038/nrm2849. Epub 2010 Feb 18. Review.

PMID:
20164840
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Alternative end-joining catalyzes robust IgH locus deletions and translocations in the combined absence of ligase 4 and Ku70.

Boboila C, Jankovic M, Yan CT, Wang JH, Wesemann DR, Zhang T, Fazeli A, Feldman L, Nussenzweig A, Nussenzweig M, Alt FW.

Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3034-9. doi: 10.1073/pnas.0915067107. Epub 2010 Jan 25. Erratum in: Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5731.

PMID:
20133803
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Structural variation in the human genome and its role in disease.

Stankiewicz P, Lupski JR.

Annu Rev Med. 2010;61:437-55. doi: 10.1146/annurev-med-100708-204735. Review.

PMID:
20059347
[PubMed - indexed for MEDLINE]
16.

Origins and functional impact of copy number variation in the human genome.

Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J; Wellcome Trust Case Control Consortium, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME.

Nature. 2010 Apr 1;464(7289):704-12. doi: 10.1038/nature08516. Epub 2009 Oct 7.

PMID:
19812545
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The role of DNA copy number variation in schizophrenia.

Tam GW, Redon R, Carter NP, Grant SG.

Biol Psychiatry. 2009 Dec 1;66(11):1005-12. doi: 10.1016/j.biopsych.2009.07.027. Epub 2009 Sep 12. Review.

PMID:
19748074
[PubMed - indexed for MEDLINE]
18.

Copy number variation in human health, disease, and evolution.

Zhang F, Gu W, Hurles ME, Lupski JR.

Annu Rev Genomics Hum Genet. 2009;10:451-81. doi: 10.1146/annurev.genom.9.081307.164217. Review.

PMID:
19715442
[PubMed - indexed for MEDLINE]
19.

Mechanisms of change in gene copy number.

Hastings PJ, Lupski JR, Rosenberg SM, Ira G.

Nat Rev Genet. 2009 Aug;10(8):551-64. doi: 10.1038/nrg2593. Review.

PMID:
19597530
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

PMID:
19578123
[PubMed - indexed for MEDLINE]
Free Article

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