Volume 12 Supplement 4

Proceedings of the European Conference on Computational Biology (ECCB) 2010 Workshop: Annotation, interpretation and management of mutations (AIMM)

Research

Edited by Christopher J O Baker, René Witte, Dietrich Rebholz-Schuhmann

ECCB 2010 Workshop: Annotation interpretation and management of mutations (AIMM). Go to conference site.

Ghent, Belgium

26 September 2010

  1. Research

    Characterization of pathogenic germline mutations in human Protein Kinases

    Protein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contri...

    Jose MG Izarzugaza, Lisa EM Hopcroft, Anja Baresic, Christine A Orengo, Andrew CR Martin and Alfonso Valencia

    BMC Bioinformatics 2011 12(Suppl 4):S1

    Published on: 5 July 2011

  2. Research

    Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

    Some single nucleotide polymorphisms (SNPs) are known to modify the risk of developing certain diseases or the reaction to drugs. Due to next generation sequencing methods the number of known human SNPs has gr...

    Kirsten Faber, Karl-Heinz Glatting, Phillip J Mueller, Angela Risch and Agnes Hotz-Wagenblatt

    BMC Bioinformatics 2011 12(Suppl 4):S2

    Published on: 5 July 2011

  3. Research

    Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiers

    Most information on genomic variations and their associations with phenotypes are covered exclusively in scientific publications rather than in structured databases. These texts commonly describe variations us...

    Philippe E Thomas, Roman Klinger, Laura I Furlong, Martin Hofmann-Apitius and Christoph M Friedrich

    BMC Bioinformatics 2011 12(Suppl 4):S4

    Published on: 5 July 2011