Publications and Media

Publications and media announcements from the Bioinformatics Research Group.

GWAS Central


  • Beck T, Shorter T, Brookes AJ. (2020). GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies. Nucleic Acids Res; 48(Database issue):D933–D940 . PubMed
  • Beck T, Hastings RK, Gollapudi S, Free RC, Brookes AJ. (2014). GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies. Eur J Hum Genet; 22(7):949-52. PubMed
  • Beck T, Free RC, Thorisson GA, Brookes AJ. (2012). Semantically enabling a genome-wide association study database. J Biomed Semantics; 3(1):9. PubMed
  • Beck, T., Thorisson, G.A. and Brookes, A.J. (2011). December. Applying ontologies and exploring nanopublishing in a genome-wide association study database. In Proceedings of the 4th International Workshop on Semantic Web Applications and Tools for the Life Sciences (pp. 1-2). ACM
  • Thorisson GA, Lancaster O, Free RC, Hastings RK, Sarmah P, Dash D, Brahmachari SK, Brookes AJ. (2009). HGVbaseG2P: a central genetic association database. Nucleic Acids Res; 37(Database issue):D797-802. PubMed

Cafe Variome


  • Lancaster O, Beck T, Atlan D, Swertz M, Veal C, Dalgleish R, Brookes AJ. (2015). Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts. Hum Mutat. PubMed


The G2P Knowledge Centre


  • Webb AJ, Thorisson GA, Brookes AJ. (2011). GEN2PHEN Consortium. An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research. Hum Mutat; 32(5):543-50. PubMed



  • Freeman, P.J., Hart, R.K., Gretton, L.J., Brookes, A.J. and Dalgleish, R. (2018). VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions. Hum Mutat; 39(1):61-68. Pubmed


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