Brookes AJ - Search Results

1

Beacon v2 and Beacon networks: A "lingua franca" for federated data discovery in biomedical genomics, and beyond.

Rambla J, Baudis M, Ariosa R, Beck T, Fromont LA, Navarro A, Paloots R, Rueda M, Saunders G, Singh B, Spalding JD, Törnroos J, Vasallo C, Veal CD, Brookes AJ. Rambla J, et al. Among authors: brookes aj. Hum Mutat. 2022 Jun;43(6):791-799. doi: 10.1002/humu.24369. Epub 2022 Apr 8. Hum Mutat. 2022. PMID: 35297548 Free PMC article.

2

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.

Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, Dash D, Rajeevan H, Darlison MW, Woon M, Fredman D, Smith AV, Senger M, Naito K, Sugawara H. Brookes AJ, et al. Hum Mutat. 2009 Jun;30(6):968-77. doi: 10.1002/humu.20973. Hum Mutat. 2009. PMID: 19479963

3

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. Reekie K, et al. Among authors: brookes aj. Hum Mutat. 2010 Jul;31(7):886-8. doi: 10.1002/humu.21270. Hum Mutat. 2010. PMID: 20506253 Free PMC article.

4

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

Webb AJ, Thorisson GA, Brookes AJ; GEN2PHEN Consortium. Webb AJ, et al. Among authors: brookes aj. Hum Mutat. 2011 May;32(5):543-50. doi: 10.1002/humu.21469. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21438073

5

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. Beck T, et al. Among authors: brookes aj. Hum Mutat. 2012 May;33(5):797-802. doi: 10.1002/humu.22066. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22392843

6

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. Adamusiak T, et al. Among authors: brookes aj. Hum Mutat. 2012 May;33(5):867-73. doi: 10.1002/humu.22070. Epub 2012 Apr 4. Hum Mutat. 2012. PMID: 22416047

7

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. Dalgleish R, et al. Among authors: brookes aj. Hum Mutat. 2012 Oct;33(10):1494-6. doi: 10.1002/humu.22123. Epub 2012 Jun 18. Hum Mutat. 2012. PMID: 22623360

8

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. Veal CD, et al. Among authors: brookes aj. BMC Genomics. 2012 Sep 5;13:455. doi: 10.1186/1471-2164-13-455. BMC Genomics. 2012. PMID: 22950736 Free PMC article.

9

Semantically enabling a genome-wide association study database.

Beck T, Free RC, Thorisson GA, Brookes AJ. Beck T, et al. Among authors: brookes aj. J Biomed Semantics. 2012 Dec 17;3(1):9. doi: 10.1186/2041-1480-3-9. J Biomed Semantics. 2012. PMID: 23244533 Free PMC article.

10

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. Veal CD, et al. Among authors: brookes aj. Bioinformatics. 2013 Aug 15;29(16):1997-2003. doi: 10.1093/bioinformatics/btt330. Epub 2013 Jun 6. Bioinformatics. 2013. PMID: 23742985 Free PMC article.

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