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Items: 1 to 50 of 167

1.

GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies.

Beck T, Shorter T, Brookes AJ.

Nucleic Acids Res. 2019 Oct 15. pii: gkz895. doi: 10.1093/nar/gkz895. [Epub ahead of print]

PMID:
31612961
2.

Publisher Correction: Federated discovery and sharing of genomic data using Beacons.

Fiume M, Cupak M, Keenan S, Rambla J, de la Torre S, Dyke SOM, Brookes AJ, Carey K, Lloyd D, Goodhand P, Haeussler M, Baudis M, Stockinger H, Dolman L, Lappalainen I, Törnroos J, Linden M, Spalding JD, Ur-Rehman S, Page A, Flicek P, Sherry S, Haussler D, Varma S, Saunders G, Scollen S.

Nat Biotechnol. 2019 Apr;37(4):480. doi: 10.1038/s41587-019-0094-2.

PMID:
30894680
3.

Addendum: The FAIR Guiding Principles for scientific data management and stewardship.

Wilkinson MD, Dumontier M, Jan Aalbersberg I, Appleton G, Axton M, Baak A, Blomberg N, Boiten JW, da Silva Santos LB, Bourne PE, Bouwman J, Brookes AJ, Clark T, Crosas M, Dillo I, Dumon O, Edmunds S, Evelo CT, Finkers R, Gonzalez-Beltran A, Gray AJG, Groth P, Goble C, Grethe JS, Heringa J, Hoen PAC', Hooft R, Kuhn T, Kok R, Kok J, Lusher SJ, Martone ME, Mons A, Packer AL, Persson B, Rocca-Serra P, Roos M, van Schaik R, Sansone SA, Schultes E, Sengstag T, Slater T, Strawn G, Swertz MA, Thompson M, van der Lei J, van Mulligen E, Jan Velterop, Waagmeester A, Wittenburg P, Wolstencroft K, Zhao J, Mons B.

Sci Data. 2019 Mar 19;6(1):6. doi: 10.1038/s41597-019-0009-6. No abstract available.

4.

Federated discovery and sharing of genomic data using Beacons.

Fiume M, Cupak M, Keenan S, Rambla J, de la Torre S, Dyke SOM, Brookes AJ, Carey K, Lloyd D, Goodhand P, Haeussler M, Baudis M, Stockinger H, Dolman L, Lappalainen I, Törnroos J, Linden M, Spalding JD, Ur-Rehman S, Page A, Flicek P, Sherry S, Haussler D, Varma S, Saunders G, Scollen S.

Nat Biotechnol. 2019 Mar;37(3):220-224. doi: 10.1038/s41587-019-0046-x. No abstract available. Erratum in: Nat Biotechnol. 2019 Mar 20;:.

5.

Registered access: authorizing data access.

Dyke SOM, Linden M, Lappalainen I, De Argila JR, Carey K, Lloyd D, Spalding JD, Cabili MN, Kerry G, Foreman J, Cutts T, Shabani M, Rodriguez LL, Haeussler M, Walsh B, Jiang X, Wang S, Perrett D, Boughtwood T, Matern A, Brookes AJ, Cupak M, Fiume M, Pandya R, Tulchinsky I, Scollen S, Törnroos J, Das S, Evans AC, Malin BA, Beck S, Brenner SE, Nyrönen T, Blomberg N, Firth HV, Hurles M, Philippakis AA, Rätsch G, Brudno M, Boycott KM, Rehm HL, Baudis M, Sherry ST, Kato K, Knoppers BM, Baker D, Flicek P.

Eur J Hum Genet. 2018 Dec;26(12):1721-1731. doi: 10.1038/s41431-018-0219-y. Epub 2018 Aug 2.

6.

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).

Woolley JP, Kirby E, Leslie J, Jeanson F, Cabili MN, Rushton G, Hazard JG, Ladas V, Veal CD, Gibson SJ, Tassé AM, Dyke SOM, Gaff C, Thorogood A, Knoppers BM, Wilbanks J, Brookes AJ.

NPJ Genom Med. 2018 Jul 23;3:17. doi: 10.1038/s41525-018-0057-4. eCollection 2018. Review.

7.

European Prevention of Alzheimer's Dementia Registry: Recruitment and prescreening approach for a longitudinal cohort and prevention trials.

Vermunt L, Veal CD, Ter Meulen L, Chrysostomou C, van der Flier W, Frisoni GB, Guessous I, Kivipelto M, Marizzoni M, Martinez-Lage P, Molinuevo JL, Porteous D, Ritchie K, Scheltens P, Ousset PJ, Ritchie CW, Luscan G, Brookes AJ, Visser PJ.

Alzheimers Dement. 2018 Jun;14(6):837-842. doi: 10.1016/j.jalz.2018.02.010. Epub 2018 Mar 28.

PMID:
29604264
8.

Simplifying research access to genomics and health data with Library Cards.

Cabili MN, Carey K, Dyke SOM, Brookes AJ, Fiume M, Jeanson F, Kerry G, Lash A, Sofia H, Spalding D, Tasse AM, Varma S, Pandya R.

Sci Data. 2018 Mar 14;5:180039. doi: 10.1038/sdata.2018.39.

9.

Sputum microbiome temporal variability and dysbiosis in chronic obstructive pulmonary disease exacerbations: an analysis of the COPDMAP study.

Wang Z, Singh R, Miller BE, Tal-Singer R, Van Horn S, Tomsho L, Mackay A, Allinson JP, Webb AJ, Brookes AJ, George LM, Barker B, Kolsum U, Donnelly LE, Belchamber K, Barnes PJ, Singh D, Brightling CE, Donaldson GC, Wedzicha JA, Brown JR; COPDMAP.

Thorax. 2018 Apr;73(4):331-338. doi: 10.1136/thoraxjnl-2017-210741. Epub 2017 Dec 21.

10.

Legacy data sharing to improve drug safety assessment: the eTOX project.

Sanz F, Pognan F, Steger-Hartmann T, Díaz C; eTOX, Cases M, Pastor M, Marc P, Wichard J, Briggs K, Watson DK, Kleinöder T, Yang C, Amberg A, Beaumont M, Brookes AJ, Brunak S, Cronin MTD, Ecker GF, Escher S, Greene N, Guzmán A, Hersey A, Jacques P, Lammens L, Mestres J, Muster W, Northeved H, Pinches M, Saiz J, Sajot N, Valencia A, van der Lei J, Vermeulen NPE, Vock E, Wolber G, Zamora I.

Nat Rev Drug Discov. 2017 Dec;16(12):811-812. doi: 10.1038/nrd.2017.177. Epub 2017 Oct 13.

PMID:
29026211
11.

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R.

Hum Mutat. 2018 Jan;39(1):61-68. doi: 10.1002/humu.23348. Epub 2017 Oct 17.

12.

Blood and sputum eosinophils in COPD; relationship with bacterial load.

Kolsum U, Donaldson GC, Singh R, Barker BL, Gupta V, George L, Webb AJ, Thurston S, Brookes AJ, McHugh TD, Wedzicha JA, Brightling CE, Singh D.

Respir Res. 2017 May 8;18(1):88. doi: 10.1186/s12931-017-0570-5.

13.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

14.

Characteristics and longitudinal progression of chronic obstructive pulmonary disease in GOLD B patients.

Lawrence PJ, Kolsum U, Gupta V, Donaldson G, Singh R, Barker B, George L, Webb A, Brookes AJ, Brightling C, Wedzicha J, Singh D.

BMC Pulm Med. 2017 Feb 20;17(1):42. doi: 10.1186/s12890-017-0384-8.

15.

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

Oetting WS, Brookes AJ, Béroud C, Taschner PE.

Hum Mutat. 2016 Oct;37(10):1110-3. doi: 10.1002/humu.23059. Epub 2016 Aug 21.

PMID:
27492570
16.

The FAIR Guiding Principles for scientific data management and stewardship.

Wilkinson MD, Dumontier M, Aalbersberg IJ, Appleton G, Axton M, Baak A, Blomberg N, Boiten JW, da Silva Santos LB, Bourne PE, Bouwman J, Brookes AJ, Clark T, Crosas M, Dillo I, Dumon O, Edmunds S, Evelo CT, Finkers R, Gonzalez-Beltran A, Gray AJ, Groth P, Goble C, Grethe JS, Heringa J, 't Hoen PA, Hooft R, Kuhn T, Kok R, Kok J, Lusher SJ, Martone ME, Mons A, Packer AL, Persson B, Rocca-Serra P, Roos M, van Schaik R, Sansone SA, Schultes E, Sengstag T, Slater T, Strawn G, Swertz MA, Thompson M, van der Lei J, van Mulligen E, Velterop J, Waagmeester A, Wittenburg P, Wolstencroft K, Zhao J, Mons B.

Sci Data. 2016 Mar 15;3:160018. doi: 10.1038/sdata.2016.18. Erratum in: Sci Data. 2019 Mar 19;6(1):6.

17.

Consent Codes: Upholding Standard Data Use Conditions.

Dyke SO, Philippakis AA, Rambla De Argila J, Paltoo DN, Luetkemeier ES, Knoppers BM, Brookes AJ, Spalding JD, Thompson M, Roos M, Boycott KM, Brudno M, Hurles M, Rehm HL, Matern A, Fiume M, Sherry ST.

PLoS Genet. 2016 Jan 21;12(1):e1005772. doi: 10.1371/journal.pgen.1005772. eCollection 2016 Jan.

18.

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

Oetting WS, Brenner SE, Brookes AJ, Greenblatt MS, Hart RK, Karchin R, Sunyaev SR, Taschner PE.

Hum Mutat. 2016 Apr;37(4):406-11. doi: 10.1002/humu.22958. Epub 2016 Feb 12. No abstract available.

19.

Extension to distributed annotation system: Summary and summaryplot commands.

Chrysostomou C, Brookes AJ.

Conf Proc IEEE Eng Med Biol Soc. 2015;2015:7655-8. doi: 10.1109/EMBC.2015.7320165.

PMID:
26738065
20.

Human genotype-phenotype databases: aims, challenges and opportunities.

Brookes AJ, Robinson PN.

Nat Rev Genet. 2015 Dec;16(12):702-15. doi: 10.1038/nrg3932. Epub 2015 Nov 10. Review.

PMID:
26553330
21.

New technologies for DNA analysis--a review of the READNA Project.

McGinn S, Bauer D, Brefort T, Dong L, El-Sagheer A, Elsharawy A, Evans G, Falk-Sörqvist E, Forster M, Fredriksson S, Freeman P, Freitag C, Fritzsche J, Gibson S, Gullberg M, Gut M, Heath S, Heath-Brun I, Heron AJ, Hohlbein J, Ke R, Lancaster O, Le Reste L, Maglia G, Marie R, Mauger F, Mertes F, Mignardi M, Moens L, Oostmeijer J, Out R, Pedersen JN, Persson F, Picaud V, Rotem D, Schracke N, Sengenes J, Stähler PF, Stade B, Stoddart D, Teng X, Veal CD, Zahra N, Bayley H, Beier M, Brown T, Dekker C, Ekström B, Flyvbjerg H, Franke A, Guenther S, Kapanidis AN, Kaye J, Kristensen A, Lehrach H, Mangion J, Sauer S, Schyns E, Tost J, van Helvoort JM, van der Zaag PJ, Tegenfeldt JO, Brookes AJ, Mir K, Nilsson M, Willcocks JP, Gut IG.

N Biotechnol. 2016 May 25;33(3):311-30. doi: 10.1016/j.nbt.2015.10.003. Epub 2015 Oct 26. Review.

PMID:
26514324
22.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

23.

Cafe Variome: general-purpose software for making genotype-phenotype data discoverable in restricted or open access contexts.

Lancaster O, Beck T, Atlan D, Swertz M, Thangavelu D, Veal C, Dalgleish R, Brookes AJ.

Hum Mutat. 2015 Oct;36(10):957-64. doi: 10.1002/humu.22841. Epub 2015 Aug 25.

PMID:
26224250
24.

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, Lewis SE, Haendel MA, Parkinson H, Robinson PN.

Am J Hum Genet. 2015 Jul 2;97(1):111-24. doi: 10.1016/j.ajhg.2015.05.020. Epub 2015 Jun 25.

25.

Data Safe Havens in health research and healthcare.

Burton PR, Murtagh MJ, Boyd A, Williams JB, Dove ES, Wallace SE, Tassé AM, Little J, Chisholm RL, Gaye A, Hveem K, Brookes AJ, Goodwin P, Fistein J, Bobrow M, Knoppers BM.

Bioinformatics. 2015 Oct 15;31(20):3241-8. doi: 10.1093/bioinformatics/btv279. Epub 2015 Jun 25. Review.

26.

The BioMart community portal: an innovative alternative to large, centralized data repositories.

Smedley D, Haider S, Durinck S, Pandini L, Provero P, Allen J, Arnaiz O, Awedh MH, Baldock R, Barbiera G, Bardou P, Beck T, Blake A, Bonierbale M, Brookes AJ, Bucci G, Buetti I, Burge S, Cabau C, Carlson JW, Chelala C, Chrysostomou C, Cittaro D, Collin O, Cordova R, Cutts RJ, Dassi E, Di Genova A, Djari A, Esposito A, Estrella H, Eyras E, Fernandez-Banet J, Forbes S, Free RC, Fujisawa T, Gadaleta E, Garcia-Manteiga JM, Goodstein D, Gray K, Guerra-Assunção JA, Haggarty B, Han DJ, Han BW, Harris T, Harshbarger J, Hastings RK, Hayes RD, Hoede C, Hu S, Hu ZL, Hutchins L, Kan Z, Kawaji H, Keliet A, Kerhornou A, Kim S, Kinsella R, Klopp C, Kong L, Lawson D, Lazarevic D, Lee JH, Letellier T, Li CY, Lio P, Liu CJ, Luo J, Maass A, Mariette J, Maurel T, Merella S, Mohamed AM, Moreews F, Nabihoudine I, Ndegwa N, Noirot C, Perez-Llamas C, Primig M, Quattrone A, Quesneville H, Rambaldi D, Reecy J, Riba M, Rosanoff S, Saddiq AA, Salas E, Sallou O, Shepherd R, Simon R, Sperling L, Spooner W, Staines DM, Steinbach D, Stone K, Stupka E, Teague JW, Dayem Ullah AZ, Wang J, Ware D, Wong-Erasmus M, Youens-Clark K, Zadissa A, Zhang SJ, Kasprzyk A.

Nucleic Acids Res. 2015 Jul 1;43(W1):W589-98. doi: 10.1093/nar/gkv350. Epub 2015 Apr 20.

27.

Germline & somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society.

Oetting WS, Greenblatt MS, Brookes AJ, Karchin R, Mooney SD.

Hum Mutat. 2015 Mar;36(3):390-3. doi: 10.1002/humu.22757. No abstract available.

PMID:
25597405
28.

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.

29.

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.

30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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
39.

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
40.

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
41.

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.

42.

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.

43.

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
44.

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.

45.

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
46.

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.

47.

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
48.

Finding and sharing: new approaches to registries of databases and services for the biomedical sciences.

Smedley D, Schofield P, Chen CK, Aidinis V, Ainali C, Bard J, Balling R, Birney E, Blake A, Bongcam-Rudloff E, Brookes AJ, Cesareni G, Chandras C, Eppig J, Flicek P, Gkoutos G, Greenaway S, Gruenberger M, Hériché JK, Lyall A, Mallon AM, Muddyman D, Reisinger F, Ringwald M, Rosenthal N, Schughart K, Swertz M, Thorisson GA, Zouberakis M, Hancock JM.

Database (Oxford). 2010 Jul 6;2010:baq014. doi: 10.1093/database/baq014.

49.

HGV2009 meeting: bigger and better studies provide more answers and more questions.

Reekie K, Metspalu A, Chanock SJ, Liu ET, Mardis ER, Scherer SW, Kwok PY, Brookes AJ.

Hum Mutat. 2010 Jul;31(7):886-8. doi: 10.1002/humu.21270.

50.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehväslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR.

Genome Med. 2010 Apr 15;2(4):24. doi: 10.1186/gm145.

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