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Items: 1 to 20 of 35

1.

A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.

Gamazon ER, Nicolae DL, Cox NJ.

PLoS Genet. 2011 Feb 3;7(2):e1001292. doi: 10.1371/journal.pgen.1001292.

2.

Inference of unexpected genetic relatedness among individuals in HapMap Phase III.

Pemberton TJ, Wang C, Li JZ, Rosenberg NA.

Am J Hum Genet. 2010 Oct 8;87(4):457-64. doi: 10.1016/j.ajhg.2010.08.014.

3.

Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies.

Yang TP, Beazley C, Montgomery SB, Dimas AS, Gutierrez-Arcelus M, Stranger BE, Deloukas P, Dermitzakis ET.

Bioinformatics. 2010 Oct 1;26(19):2474-6. doi: 10.1093/bioinformatics/btq452. Epub 2010 Aug 10.

4.

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.

Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ.

Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266.

5.

A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies.

Stegle O, Parts L, Durbin R, Winn J.

PLoS Comput Biol. 2010 May 6;6(5):e1000770. doi: 10.1371/journal.pcbi.1000770.

6.

Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

Nica AC, Montgomery SB, Dimas AS, Stranger BE, Beazley C, Barroso I, Dermitzakis ET.

PLoS Genet. 2010 Apr 1;6(4):e1000895. doi: 10.1371/journal.pgen.1000895.

7.

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.

Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ.

PLoS Genet. 2010 Apr 1;6(4):e1000888. doi: 10.1371/journal.pgen.1000888.

8.

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.

9.

Sex-specific and lineage-specific alternative splicing in primates.

Blekhman R, Marioni JC, Zumbo P, Stephens M, Gilad Y.

Genome Res. 2010 Feb;20(2):180-9. doi: 10.1101/gr.099226.109. Epub 2009 Dec 15.

10.

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.

11.

Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence.

Torgerson DG, Boyko AR, Hernandez RD, Indap A, Hu X, White TJ, Sninsky JJ, Cargill M, Adams MD, Bustamante CD, Clark AG.

PLoS Genet. 2009 Aug;5(8):e1000592. doi: 10.1371/journal.pgen.1000592. Epub 2009 Aug 7.

12.

Population genomics in a disease targeted primary cell model.

Grundberg E, Kwan T, Ge B, Lam KC, Koka V, Kindmark A, Mallmin H, Dias J, Verlaan DJ, Ouimet M, Sinnett D, Rivadeneira F, Estrada K, Hofman A, van Meurs JM, Uitterlinden A, Beaulieu P, Graziani A, Harmsen E, Ljunggren O, Ohlsson C, Mellström D, Karlsson MK, Nilsson O, Pastinen T.

Genome Res. 2009 Nov;19(11):1942-52. doi: 10.1101/gr.095224.109. Epub 2009 Aug 4.

13.

Common regulatory variation impacts gene expression in a cell type-dependent manner.

Dimas AS, Deutsch S, Stranger BE, Montgomery SB, Borel C, Attar-Cohen H, Ingle C, Beazley C, Gutierrez Arcelus M, Sekowska M, Gagnebin M, Nisbett J, Deloukas P, Dermitzakis ET, Antonarakis SE.

Science. 2009 Sep 4;325(5945):1246-50. doi: 10.1126/science.1174148. Epub 2009 Jul 30.

14.

The genetics of quantitative traits: challenges and prospects.

Mackay TF, Stone EA, Ayroles JF.

Nat Rev Genet. 2009 Aug;10(8):565-77. doi: 10.1038/nrg2612. Review.

PMID:
19584810
15.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA.

Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9362-7. doi: 10.1073/pnas.0903103106. Epub 2009 May 27.

16.

Segmental duplications contribute to gene expression differences between humans and chimpanzees.

Blekhman R, Oshlack A, Gilad Y.

Genetics. 2009 Jun;182(2):627-30. doi: 10.1534/genetics.108.099960. Epub 2009 Mar 30.

17.

Gene expression levels are a target of recent natural selection in the human genome.

Kudaravalli S, Veyrieras JB, Stranger BE, Dermitzakis ET, Pritchard JK.

Mol Biol Evol. 2009 Mar;26(3):649-58. doi: 10.1093/molbev/msn289. Epub 2008 Dec 17.

18.

Assessing the evolutionary impact of amino acid mutations in the human genome.

Boyko AR, Williamson SH, Indap AR, Degenhardt JD, Hernandez RD, Lohmueller KE, Adams MD, Schmidt S, Sninsky JJ, Sunyaev SR, White TJ, Nielsen R, Clark AG, Bustamante CD.

PLoS Genet. 2008 May 30;4(5):e1000083. doi: 10.1371/journal.pgen.1000083.

19.

Genetics of gene expression and its effect on disease.

Emilsson V, Thorleifsson G, Zhang B, Leonardson AS, Zink F, Zhu J, Carlson S, Helgason A, Walters GB, Gunnarsdottir S, Mouy M, Steinthorsdottir V, Eiriksdottir GH, Bjornsdottir G, Reynisdottir I, Gudbjartsson D, Helgadottir A, Jonasdottir A, Jonasdottir A, Styrkarsdottir U, Gretarsdottir S, Magnusson KP, Stefansson H, Fossdal R, Kristjansson K, Gislason HG, Stefansson T, Leifsson BG, Thorsteinsdottir U, Lamb JR, Gulcher JR, Reitman ML, Kong A, Schadt EE, Stefansson K.

Nature. 2008 Mar 27;452(7186):423-8. doi: 10.1038/nature06758. Epub 2008 Mar 16.

PMID:
18344981
20.

A survey of genetic human cortical gene expression.

Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, Marlowe L, Kaleem M, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, Craig DW, Pearson JV, Holmans P, Heward CB, Reiman EM, Stephan D, Hardy J.

Nat Genet. 2007 Dec;39(12):1494-9. Epub 2007 Nov 4.

PMID:
17982457

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