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Items: 1 to 20 of 63

1.

Annotation of functional variation in personal genomes using RegulomeDB.

Boyle AP, Hong EL, Hariharan M, Cheng Y, Schaub MA, Kasowski M, Karczewski KJ, Park J, Hitz BC, Weng S, Cherry JM, Snyder M.

Genome Res. 2012 Sep;22(9):1790-7. doi: 10.1101/gr.137323.112.

2.

GENCODE: the reference human genome annotation for The ENCODE Project.

Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, Kokocinski F, Aken BL, Barrell D, Zadissa A, Searle S, Barnes I, Bignell A, Boychenko V, Hunt T, Kay M, Mukherjee G, Rajan J, Despacio-Reyes G, Saunders G, Steward C, Harte R, Lin M, Howald C, Tanzer A, Derrien T, Chrast J, Walters N, Balasubramanian S, Pei B, Tress M, Rodriguez JM, Ezkurdia I, van Baren J, Brent M, Haussler D, Kellis M, Valencia A, Reymond A, Gerstein M, Guigó R, Hubbard TJ.

Genome Res. 2012 Sep;22(9):1760-74. doi: 10.1101/gr.135350.111.

3.

An integrated encyclopedia of DNA elements in the human genome.

ENCODE Project Consortium..

Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247.

4.

Database resources of the National Center for Biotechnology Information.

Sayers EW, Barrett T, Benson DA, Bolton E, Bryant SH, Canese K, Chetvernin V, Church DM, Dicuccio M, Federhen S, Feolo M, Fingerman IM, Geer LY, Helmberg W, Kapustin Y, Krasnov S, Landsman D, Lipman DJ, Lu Z, Madden TL, Madej T, Maglott DR, Marchler-Bauer A, Miller V, Karsch-Mizrachi I, Ostell J, Panchenko A, Phan L, Pruitt KD, Schuler GD, Sequeira E, Sherry ST, Shumway M, Sirotkin K, Slotta D, Souvorov A, Starchenko G, Tatusova TA, Wagner L, Wang Y, Wilbur WJ, Yaschenko E, Ye J.

Nucleic Acids Res. 2012 Jan;40(Database issue):D13-25. doi: 10.1093/nar/gkr1184.

5.

Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.

Sanna S, Li B, Mulas A, Sidore C, Kang HM, Jackson AU, Piras MG, Usala G, Maninchedda G, Sassu A, Serra F, Palmas MA, Wood WH 3rd, Njølstad I, Laakso M, Hveem K, Tuomilehto J, Lakka TA, Rauramaa R, Boehnke M, Cucca F, Uda M, Schlessinger D, Nagaraja R, Abecasis GR.

PLoS Genet. 2011 Jul;7(7):e1002198. doi: 10.1371/journal.pgen.1002198.

6.

Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

Paul DS, Nisbet JP, Yang TP, Meacham S, Rendon A, Hautaviita K, Tallila J, White J, Tijssen MR, Sivapalaratnam S, Basart H, Trip MD; Cardiogenics Consortium.; MuTHER Consortium., Göttgens B, Soranzo N, Ouwehand WH, Deloukas P.

PLoS Genet. 2011 Jun;7(6):e1002139. doi: 10.1371/journal.pgen.1002139. Erratum in: PLoS Genet. 2011 Jul;7(7). doi: 10.1371/annotation/5d0c3be4-6f34-420a-960f-0a880bbf6128.

7.

A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.

Wild PS, Zeller T, Schillert A, Szymczak S, Sinning CR, Deiseroth A, Schnabel RB, Lubos E, Keller T, Eleftheriadis MS, Bickel C, Rupprecht HJ, Wilde S, Rossmann H, Diemert P, Cupples LA, Perret C, Erdmann J, Stark K, Kleber ME, Epstein SE, Voight BF, Kuulasmaa K, Li M, Schäfer AS, Klopp N, Braund PS, Sager HB, Demissie S, Proust C, König IR, Wichmann HE, Reinhard W, Hoffmann MM, Virtamo J, Burnett MS, Siscovick D, Wiklund PG, Qu L, El Mokthari NE, Thompson JR, Peters A, Smith AV, Yon E, Baumert J, Hengstenberg C, März W, Amouyel P, Devaney J, Schwartz SM, Saarela O, Mehta NN, Rubin D, Silander K, Hall AS, Ferrieres J, Harris TB, Melander O, Kee F, Hakonarson H, Schrezenmeir J, Gudnason V, Elosua R, Arveiler D, Evans A, Rader DJ, Illig T, Schreiber S, Bis JC, Altshuler D, Kavousi M, Witteman JC, Uitterlinden AG, Hofman A, Folsom AR, Barbalic M, Boerwinkle E, Kathiresan S, Reilly MP, O'Donnell CJ, Samani NJ, Schunkert H, Cambien F, Lackner KJ, Tiret L, Salomaa V, Munzel T, Ziegler A, Blankenberg S.

Circ Cardiovasc Genet. 2011 Aug 1;4(4):403-12. doi: 10.1161/CIRCGENETICS.110.958728.

8.

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes.

Carvajal-Carmona LG, Cazier JB, Jones AM, Howarth K, Broderick P, Pittman A, Dobbins S, Tenesa A, Farrington S, Prendergast J, Theodoratou E, Barnetson R, Conti D, Newcomb P, Hopper JL, Jenkins MA, Gallinger S, Duggan DJ, Campbell H, Kerr D, Casey G, Houlston R, Dunlop M, Tomlinson I.

Hum Mol Genet. 2011 Jul 15;20(14):2879-88. doi: 10.1093/hmg/ddr190.

9.

Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer.

Chung CC, Ciampa J, Yeager M, Jacobs KB, Berndt SI, Hayes RB, Gonzalez-Bosquet J, Kraft P, Wacholder S, Orr N, Yu K, Hutchinson A, Boland J, Chen Q, Feigelson HS, Thun MJ, Diver WR, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Cancel-Tassin G, Cussenot O, Valeri A, Andriole GL, Crawford ED, Haiman CA, Henderson BE, Kolonel L, Le Marchand L, Siddiq A, Riboli E, Key TJ, Kaaks R, Isaacs WB, Isaacs SD, Grönberg H, Wiklund F, Xu J, Vatten LJ, Hveem K, Njolstad I, Gerhard DS, Tucker M, Hoover RN, Fraumeni JF Jr, Hunter DJ, Thomas G, Chatterjee N, Chanock SJ.

Hum Mol Genet. 2011 Jul 15;20(14):2869-78. doi: 10.1093/hmg/ddr189.

10.

A user's guide to the encyclopedia of DNA elements (ENCODE).

ENCODE Project Consortium..

PLoS Biol. 2011 Apr;9(4):e1001046. doi: 10.1371/journal.pbio.1001046.

11.

Mapping and analysis of chromatin state dynamics in nine human cell types.

Ernst J, Kheradpour P, Mikkelsen TS, Shoresh N, Ward LD, Epstein CB, Zhang X, Wang L, Issner R, Coyne M, Ku M, Durham T, Kellis M, Bernstein BE.

Nature. 2011 May 5;473(7345):43-9. doi: 10.1038/nature09906.

12.

Peripheral reduction of β-amyloid is sufficient to reduce brain β-amyloid: implications for Alzheimer's disease.

Sutcliffe JG, Hedlund PB, Thomas EA, Bloom FE, Hilbush BS.

J Neurosci Res. 2011 Jun;89(6):808-14. doi: 10.1002/jnr.22603.

PMID:
21374699
13.

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, Benjamin EJ, Bennett F, Bowden DW, Chakravarti A, Dreisbach A, Farlow DN, Folsom AR, Fornage M, Forrester T, Fox E, Haiman CA, Hartiala J, Harris TB, Hazen SL, Heckbert SR, Henderson BE, Hirschhorn JN, Keating BJ, Kritchevsky SB, Larkin E, Li M, Rudock ME, McKenzie CA, Meigs JB, Meng YA, Mosley TH, Newman AB, Newton-Cheh CH, Paltoo DN, Papanicolaou GJ, Patterson N, Post WS, Psaty BM, Qasim AN, Qu L, Rader DJ, Redline S, Reilly MP, Reiner AP, Rich SS, Rotter JI, Liu Y, Shrader P, Siscovick DS, Tang WH, Taylor HA, Tracy RP, Vasan RS, Waters KM, Wilks R, Wilson JG, Fabsitz RR, Gabriel SB, Kathiresan S, Boerwinkle E.

PLoS Genet. 2011 Feb 10;7(2):e1001300. doi: 10.1371/journal.pgen.1001300.

14.

9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.

Harismendy O, Notani D, Song X, Rahim NG, Tanasa B, Heintzman N, Ren B, Fu XD, Topol EJ, Rosenfeld MG, Frazer KA.

Nature. 2011 Feb 10;470(7333):264-8. doi: 10.1038/nature09753.

15.

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

Kral BG, Mathias RA, Suktitipat B, Ruczinski I, Vaidya D, Yanek LR, Quyyumi AA, Patel RS, Zafari AM, Vaccarino V, Hauser ER, Kraus WE, Becker LC, Becker DM.

J Hum Genet. 2011 Mar;56(3):224-9. doi: 10.1038/jhg.2010.171.

16.

The diabetogenic VPS13C/C2CD4A/C2CD4B rs7172432 variant impairs glucose-stimulated insulin response in 5,722 non-diabetic Danish individuals.

Grarup N, Overvad M, Sparsø T, Witte DR, Pisinger C, Jørgensen T, Yamauchi T, Hara K, Maeda S, Kadowaki T, Hansen T, Pedersen O.

Diabetologia. 2011 Apr;54(4):789-94. doi: 10.1007/s00125-010-2031-2.

PMID:
21249489
17.

Accurate inference of transcription factor binding from DNA sequence and chromatin accessibility data.

Pique-Regi R, Degner JF, Pai AA, Gaffney DJ, Gilad Y, Pritchard JK.

Genome Res. 2011 Mar;21(3):447-55. doi: 10.1101/gr.112623.110.

18.

High-resolution genome-wide in vivo footprinting of diverse transcription factors in human cells.

Boyle AP, Song L, Lee BK, London D, Keefe D, Birney E, Iyer VR, Crawford GE, Furey TS.

Genome Res. 2011 Mar;21(3):456-64. doi: 10.1101/gr.112656.110.

19.

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].

20.

is-rSNP: a novel technique for in silico regulatory SNP detection.

Macintyre G, Bailey J, Haviv I, Kowalczyk A.

Bioinformatics. 2010 Sep 15;26(18):i524-30. doi: 10.1093/bioinformatics/btq378.

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