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Results: 1 to 20 of 77

1.

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
2.

Deciphering the splicing code.

Barash Y, Calarco JA, Gao W, Pan Q, Wang X, Shai O, Blencowe BJ, Frey BJ.

Nature. 2010 May 6;465(7294):53-9. doi: 10.1038/nature09000.

PMID:
20445623
[PubMed - indexed for MEDLINE]
3.

Understanding mechanisms underlying human gene expression variation with RNA sequencing.

Pickrell JK, Marioni JC, Pai AA, Degner JF, Engelhardt BE, Nkadori E, Veyrieras JB, Stephens M, Gilad Y, Pritchard JK.

Nature. 2010 Apr 1;464(7289):768-72. doi: 10.1038/nature08872. Epub 2010 Mar 10.

PMID:
20220758
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Transcriptome genetics using second generation sequencing in a Caucasian population.

Montgomery SB, Sammeth M, Gutierrez-Arcelus M, Lach RP, Ingle C, Nisbett J, Guigo R, Dermitzakis ET.

Nature. 2010 Apr 1;464(7289):773-7. doi: 10.1038/nature08903. Epub 2010 Mar 10.

PMID:
20220756
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Genomic features defining exonic variants that modulate splicing.

Woolfe A, Mullikin JC, Elnitski L.

Genome Biol. 2010;11(2):R20. doi: 10.1186/gb-2010-11-2-r20. Epub 2010 Feb 16.

PMID:
20158892
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Expansion of the eukaryotic proteome by alternative splicing.

Nilsen TW, Graveley BR.

Nature. 2010 Jan 28;463(7280):457-63. doi: 10.1038/nature08909. Review.

PMID:
20110989
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes.

Goode DL, Cooper GM, Schmutz J, Dickson M, Gonzales E, Tsai M, Karra K, Davydov E, Batzoglou S, Myers RM, Sidow A.

Genome Res. 2010 Mar;20(3):301-10. doi: 10.1101/gr.102210.109. Epub 2010 Jan 12.

PMID:
20067941
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Human genetic variation recognizes functional elements in noncoding sequence.

Lomelin D, Jorgenson E, Risch N.

Genome Res. 2010 Mar;20(3):311-9. doi: 10.1101/gr.094151.109. Epub 2009 Dec 23.

PMID:
20032171
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Fine-scale variation and genetic determinants of alternative splicing across individuals.

Coulombe-Huntington J, Lam KC, Dias C, Majewski J.

PLoS Genet. 2009 Dec;5(12):e1000766. doi: 10.1371/journal.pgen.1000766. Epub 2009 Dec 11.

PMID:
20011102
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The UCSC Genome Browser database: update 2010.

Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita PA, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, Pohl A, Pheasant M, Meyer LR, Learned K, Hsu F, Hillman-Jackson J, Harte RA, Giardine B, Dreszer TR, Clawson H, Barber GP, Haussler D, Kent WJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D613-9. doi: 10.1093/nar/gkp939. Epub 2009 Nov 11.

PMID:
19906737
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Splice site strength-dependent activity and genetic buffering by poly-G runs.

Xiao X, Wang Z, Jang M, Nutiu R, Wang ET, Burge CB.

Nat Struct Mol Biol. 2009 Oct;16(10):1094-100. doi: 10.1038/nsmb.1661. Epub 2009 Sep 13.

PMID:
19749754
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Targeted capture and massively parallel sequencing of 12 human exomes.

Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J.

Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.

PMID:
19684571
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Tissue effect on genetic control of transcript isoform variation.

Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, Estrada K, van Meurs JB, Uitterlinden A, Karlsson M, Ohlsson C, Mellström D, Nilsson O, Pastinen T, Majewski J.

PLoS Genet. 2009 Aug;5(8):e1000608. doi: 10.1371/journal.pgen.1000608. Epub 2009 Aug 14.

PMID:
19680542
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing.

Warzecha CC, Sato TK, Nabet B, Hogenesch JB, Carstens RP.

Mol Cell. 2009 Mar 13;33(5):591-601. doi: 10.1016/j.molcel.2009.01.025.

PMID:
19285943
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

RNA and disease.

Cooper TA, Wan L, Dreyfuss G.

Cell. 2009 Feb 20;136(4):777-93. doi: 10.1016/j.cell.2009.02.011. Review.

PMID:
19239895
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Tissue-specific genetic control of splicing: implications for the study of complex traits.

Heinzen EL, Ge D, Cronin KD, Maia JM, Shianna KV, Gabriel WN, Welsh-Bohmer KA, Hulette CM, Denny TN, Goldstein DB.

PLoS Biol. 2008 Dec 23;6(12):e1. doi: 10.1371/journal.pbio.1000001.

PMID:
19222302
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Identification of common genetic variants that account for transcript isoform variation between human populations.

Zhang W, Duan S, Bleibel WK, Wisel SA, Huang RS, Wu X, He L, Clark TA, Chen TX, Schweitzer AC, Blume JE, Dolan ME, Cox NJ.

Hum Genet. 2009 Feb;125(1):81-93. doi: 10.1007/s00439-008-0601-x. Epub 2008 Dec 4.

PMID:
19052777
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

RNA-Seq: a revolutionary tool for transcriptomics.

Wang Z, Gerstein M, Snyder M.

Nat Rev Genet. 2009 Jan;10(1):57-63. doi: 10.1038/nrg2484. Review.

PMID:
19015660
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing.

Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ.

Nat Genet. 2008 Dec;40(12):1413-5. doi: 10.1038/ng.259. Epub 2008 Nov 2. Erratum in: Nat Genet. 2009 Jun;41(6):762.

PMID:
18978789
[PubMed - indexed for MEDLINE]
20.

Alternative isoform regulation in human tissue transcriptomes.

Wang ET, Sandberg R, Luo S, Khrebtukova I, Zhang L, Mayr C, Kingsmore SF, Schroth GP, Burge CB.

Nature. 2008 Nov 27;456(7221):470-6. doi: 10.1038/nature07509.

PMID:
18978772
[PubMed - indexed for MEDLINE]
Free PMC Article

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