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Items: 1 to 20 of 28

1.

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P, Bassett AS, Seller A, Holmes CC, Ragoussis J.

Nucleic Acids Res. 2007;35(6):2013-25. Epub 2007 Mar 6.

2.
3.

Global variation in copy number in the human genome.

Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME.

Nature. 2006 Nov 23;444(7118):444-54.

4.

Genome assembly comparison identifies structural variants in the human genome.

Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L.

Nat Genet. 2006 Dec;38(12):1413-8. Epub 2006 Nov 22.

5.

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M.

Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4534-9. Epub 2006 Mar 14.

6.

High-throughput genotyping of intermediate-size structural variation.

Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE.

Hum Mol Genet. 2006 Apr 1;15(7):1159-67. Epub 2006 Feb 23.

PMID:
16497726
7.

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.

Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT.

Nature. 2006 Feb 16;439(7078):851-5.

PMID:
16482158
8.

Common deletion polymorphisms in the human genome.

McCarroll SA, Hadnott TN, Perry GH, Sabeti PC, Zody MC, Barrett JC, Dallaire S, Gabriel SB, Lee C, Daly MJ, Altshuler DM; International HapMap Consortium.

Nat Genet. 2006 Jan;38(1):86-92.

PMID:
16468122
9.

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

PLoS Genet. 2005 Dec;1(6):e49. Review.

10.

Structural variation in the human genome.

Feuk L, Carson AR, Scherer SW.

Nat Rev Genet. 2006 Feb;7(2):85-97. Review.

PMID:
16418744
11.

Common deletions and SNPs are in linkage disequilibrium in the human genome.

Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA.

Nat Genet. 2006 Jan;38(1):82-5. Epub 2005 Dec 4.

PMID:
16327809
12.

A high-resolution survey of deletion polymorphism in the human genome.

Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK.

Nat Genet. 2006 Jan;38(1):75-81. Epub 2005 Dec 4.

PMID:
16327808
13.

A comparison study: applying segmentation to array CGH data for downstream analyses.

Willenbrock H, Fridlyand J.

Bioinformatics. 2005 Nov 15;21(22):4084-91. Epub 2005 Sep 13.

PMID:
16159913
14.

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH.

Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL.

Genes Chromosomes Cancer. 2005 Nov;44(3):305-19.

PMID:
16075461
15.

Segmental duplications and copy-number variation in the human genome.

Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE.

Am J Hum Genet. 2005 Jul;77(1):78-88. Epub 2005 May 25.

16.

Fine-scale structural variation of the human genome.

Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE.

Nat Genet. 2005 Jul;37(7):727-32. Epub 2005 May 15.

PMID:
15895083
18.

Whole-genome patterns of common DNA variation in three human populations.

Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR.

Science. 2005 Feb 18;307(5712):1072-9.

19.

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.

Gonzalez E, Kulkarni H, Bolivar H, Mangano A, Sanchez R, Catano G, Nibbs RJ, Freedman BI, Quinones MP, Bamshad MJ, Murthy KK, Rovin BH, Bradley W, Clark RA, Anderson SA, O'connell RJ, Agan BK, Ahuja SS, Bologna R, Sen L, Dolan MJ, Ahuja SK.

Science. 2005 Mar 4;307(5714):1434-40. Epub 2005 Jan 6.

20.

Global identification of human transcribed sequences with genome tiling arrays.

Bertone P, Stolc V, Royce TE, Rozowsky JS, Urban AE, Zhu X, Rinn JL, Tongprasit W, Samanta M, Weissman S, Gerstein M, Snyder M.

Science. 2004 Dec 24;306(5705):2242-6. Epub 2004 Nov 11.

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