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Results: 1 to 20 of 139

1.

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies.

Beck T, Hastings RK, Gollapudi S, Free RC, Brookes AJ.

Eur J Hum Genet. 2014 Jul;22(7):949-52. doi: 10.1038/ejhg.2013.274. Epub 2013 Dec 4.

PMID:
24301061
[PubMed - in process]
Free PMC Article
2.

A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3.

Veal CD, Reekie KE, Lorentzen JC, Gregersen PK, Padyukov L, Brookes AJ.

Hum Mutat. 2014 Feb;35(2):248-56. doi: 10.1002/humu.22471. Epub 2013 Dec 2.

PMID:
24178905
[PubMed - in process]
Free PMC Article
3.

Improving data and knowledge management to better integrate health care and research.

Cases M, Furlong LI, Albanell J, Altman RB, Bellazzi R, Boyer S, Brand A, Brookes AJ, Brunak S, Clark TW, Gea J, Ghazal P, Graf N, Guigó R, Klein TE, López-Bigas N, Maojo V, Mons B, Musen M, Oliveira JL, Rowe A, Ruch P, Shabo A, Shortliffe EH, Valencia A, van der Lei J, Mayer MA, Sanz F.

J Intern Med. 2013 Oct;274(4):321-8. doi: 10.1111/joim.12105. Epub 2013 Jul 15. No abstract available.

PMID:
23808970
[PubMed - indexed for MEDLINE]
4.

Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation.

Veal CD, Xu H, Reekie K, Free R, Hardwick RJ, McVey D, Brookes AJ, Hollox EJ, Talbot CJ.

Bioinformatics. 2013 Aug 15;29(16):1997-2003. doi: 10.1093/bioinformatics/btt330. Epub 2013 Jun 6.

PMID:
23742985
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

A P3G generic access agreement for population genomic studies.

Knoppers BM, Chisholm RL, Kaye J, Cox D; P3G International Steering Committee, Thorogood A, Burton P, Brookes AJ, Fortier I, Goodwin P, Harris JR, Hveem K, Kent A, Little J, Riegman PH, Ripatti S, Stolk RP.

Nat Biotechnol. 2013 May;31(5):384-5. doi: 10.1038/nbt.2567. No abstract available.

PMID:
23657386
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

HGV2012: leveraging next-generation technology and large datasets to advance disease research.

Gonzaludo N, Zheng HX, Wang J, Chanock SJ, Jin L, Scherer S, Wijmenga C, Kwok PY, Brookes AJ.

Hum Mutat. 2013 Apr;34(4):657-60. doi: 10.1002/humu.22270.

PMID:
23315969
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Semantically enabling a genome-wide association study database.

Beck T, Free RC, Thorisson GA, Brookes AJ.

J Biomed Semantics. 2012 Dec 17;3(1):9. doi: 10.1186/2041-1480-3-9.

PMID:
23244533
[PubMed]
Free PMC Article
8.

VarioML framework for comprehensive variation data representation and exchange.

Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J.

BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254.

PMID:
23031277
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

A mechanistic basis for amplification differences between samples and between genome regions.

Veal CD, Freeman PJ, Jacobs K, Lancaster O, Jamain S, Leboyer M, Albanes D, Vaghela RR, Gut I, Chanock SJ, Brookes AJ.

BMC Genomics. 2012 Sep 5;13:455. doi: 10.1186/1471-2164-13-455.

PMID:
22950736
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Toward a roadmap in global biobanking for health.

Harris JR, Burton P, Knoppers BM, Lindpaintner K, Bledsoe M, Brookes AJ, Budin-Ljøsne I, Chisholm R, Cox D, Deschênes M, Fortier I, Hainaut P, Hewitt R, Kaye J, Litton JE, Metspalu A, Ollier B, Palmer LJ, Palotie A, Pasterk M, Perola M, Riegman PH, van Ommen GJ, Yuille M, Zatloukal K.

Eur J Hum Genet. 2012 Nov;20(11):1105-11. doi: 10.1038/ejhg.2012.96. Epub 2012 Jun 20.

PMID:
22713808
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Solving bottlenecks in data sharing in the life sciences.

Dalgleish R, Molero E, Kidd R, Jansen M, Past D, Robl A, Mons B, Diaz C, Mons A, Brookes AJ.

Hum Mutat. 2012 Oct;33(10):1494-6. doi: 10.1002/humu.22123. Epub 2012 Jun 18.

PMID:
22623360
[PubMed - indexed for MEDLINE]
12.

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.

Adamusiak T, Parkinson H, Muilu J, Roos E, van der Velde KJ, Thorisson GA, Byrne M, Pang C, Gollapudi S, Ferretti V, Hillege H, Brookes AJ, Swertz MA.

Hum Mutat. 2012 May;33(5):867-73. doi: 10.1002/humu.22070. Epub 2012 Apr 4.

PMID:
22416047
[PubMed - indexed for MEDLINE]
13.

Knowledge engineering for health: a new discipline required to bridge the "ICT gap" between research and healthcare.

Beck T, Gollapudi S, Brunak S, Graf N, Lemke HU, Dash D, Buchan I, Díaz C, Sanz F, Brookes AJ.

Hum Mutat. 2012 May;33(5):797-802. doi: 10.1002/humu.22066. Epub 2012 Apr 4.

PMID:
22392843
[PubMed - indexed for MEDLINE]
14.

HGV2011: personalized genomic medicine meets the incidentalome.

Wilson Sayres MA, Brookes AJ, Chanock SJ, Cheung VG, Goldstein DB, Jin L, Kwok PY.

Hum Mutat. 2012 Mar;33(3):582-5. doi: 10.1002/humu.22008. Epub 2012 Jan 17.

PMID:
22170622
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Targeted enrichment of genomic DNA regions for next-generation sequencing.

Mertes F, Elsharawy A, Sauer S, van Helvoort JM, van der Zaag PJ, Franke A, Nilsson M, Lehrach H, Brookes AJ.

Brief Funct Genomics. 2011 Nov;10(6):374-86. doi: 10.1093/bfgp/elr033. Epub 2011 Nov 26. Review.

PMID:
22121152
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Clarity and claims in variation/mutation databasing.

Dalgleish R, Oetting WS, Auerbach AD, Beckmann JS, Cambon-Thomsen A, Devereau A, Greenblatt MS, Patrinos GP, Taylor GR, Vihinen M, Brookes AJ.

Nat Biotechnol. 2011 Sep 8;29(9):790-2; author reply 792-4. doi: 10.1038/nbt.1961. No abstract available.

PMID:
21904316
[PubMed - indexed for MEDLINE]
17.

Systems medicine and integrated care to combat chronic noncommunicable diseases.

Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, Baranov A, Bieber T, Bockaert J, Brahmachari S, Brambilla C, Bringer J, Dauzat M, Ernberg I, Fabbri L, Froguel P, Galas D, Gojobori T, Hunter P, Jorgensen C, Kauffmann F, Kourilsky P, Kowalski ML, Lancet D, Pen CL, Mallet J, Mayosi B, Mercier J, Metspalu A, Nadeau JH, Ninot G, Noble D, Oztürk M, Palkonen S, Préfaut C, Rabe K, Renard E, Roberts RG, Samolinski B, Schünemann HJ, Simon HU, Soares MB, Superti-Furga G, Tegner J, Verjovski-Almeida S, Wellstead P, Wolkenhauer O, Wouters E, Balling R, Brookes AJ, Charron D, Pison C, Chen Z, Hood L, Auffray C.

Genome Med. 2011 Jul 6;3(7):43. doi: 10.1186/gm259.

PMID:
21745417
[PubMed]
Free PMC Article
18.

An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.

Webb AJ, Thorisson GA, Brookes AJ; GEN2PHEN Consortium.

Hum Mutat. 2011 May;32(5):543-50. doi: 10.1002/humu.21469. Epub 2011 Mar 22.

PMID:
21438073
[PubMed - indexed for MEDLINE]
19.

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.

Swertz MA, Dijkstra M, Adamusiak T, van der Velde JK, Kanterakis A, Roos ET, Lops J, Thorisson GA, Arends D, Byelas G, Muilu J, Brookes AJ, de Brock EO, Jansen RC, Parkinson H.

BMC Bioinformatics. 2010 Dec 21;11 Suppl 12:S12. doi: 10.1186/1471-2105-11-S12-S12.

PMID:
21210979
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.

Mitropoulou C, Webb AJ, Mitropoulos K, Brookes AJ, Patrinos GP.

Hum Mutat. 2010 Oct;31(10):1109-16. doi: 10.1002/humu.21332.

PMID:
20672379
[PubMed - indexed for MEDLINE]

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