Volume 10 Supplement 8

Proceedings of the European Conference on Computational Biology (ECCB) 2008 Workshop: Annotations, interpretation and management of mutations (AIMM)


Edited by Christopher JO Baker and Dietrich Rebholz-Schuhmann

ECCB 2008 Workshop: Annotations, interpretation and management of mutations (AIMM). Go to conference site.

Cagliari, Italy

22 September 2008

  1. Research

    An integrated approach to the interpretation of Single Amino Acid Polymorphisms within the framework of CATH and Gene3D

    The phenotypic effects of sequence variations in protein-coding regions come about primarily via their effects on the resulting structures, for example by disrupting active sites or affecting structural stabil...

    Jose MG Izarzugaza, Anja Baresic, Lisa EM McMillan, Corin Yeats, Andrew B Clegg, Christine A Orengo, Andrew CR Martin and Alfonso Valencia

    BMC Bioinformatics 2009 10(Suppl 8):S5

    Published on: 27 August 2009

  2. Research

    MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease

    Human mitochondrial DNA (mtDNA) variations have been implicated in a broad spectrum of diseases. With over 3000 mtDNA variations reported across databases, establishing pathogenicity of variations in mtDNA is ...

    Anshu Bhardwaj, Mitali Mukerji, Shipra Sharma, Jinny Paul, Chaitanya S Gokhale, Achal K Srivastava and Shrish Tiwari

    BMC Bioinformatics 2009 10(Suppl 8):S7

    Published on: 27 August 2009