Volume 10 Supplement 8
Proceedings of the European Conference on Computational Biology (ECCB) 2008 Workshop: Annotations, interpretation and management of mutations (AIMM)
Research
Edited by Christopher JO Baker and Dietrich Rebholz-Schuhmann
ECCB 2008 Workshop: Annotations, interpretation and management of mutations (AIMM). Go to conference site.
Cagliari, Italy22 September 2008
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Citation: BMC Bioinformatics 2009 10(Suppl 8):I1
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Extraction of human kinase mutations from literature, databases and genotyping studies
There is a considerable interest in characterizing the biological role of specific protein residue substitutions through mutagenesis experiments. Additionally, recent efforts related to the detection of diseas...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S1 -
EnzyMiner: automatic identification of protein level mutations and their impact on target enzymes from PubMed abstracts
A better understanding of the mechanisms of an enzyme's functionality and stability, as well as knowledge and impact of mutations is crucial for researchers working with enzymes. Though, several of the enzymes...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S2 -
Improved mutation tagging with gene identifiers applied to membrane protein stability prediction
The automated retrieval and integration of information about protein point mutations in combination with structure, domain and interaction data from literature and databases promises to be a valuable approach ...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S3 -
Annotation of protein residues based on a literature analysis: cross-validation against UniProtKb
A protein annotation database, such as the Universal Protein Resource knowledge base (UniProtKb), is a valuable resource for the validation and interpretation of predicted 3D structure patterns in proteins. Ex...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S4 -
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...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S5 -
From SNPs to pathways: integration of functional effect of sequence variations on models of cell signalling pathways
Single nucleotide polymorphisms (SNPs) are the most frequent type of sequence variation between individuals, and represent a promising tool for finding genetic determinants of complex diseases and understandin...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S6 -
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 ...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S7 -
Correlating protein function and stability through the analysis of single amino acid substitutions
Mutations resulting in the disruption of protein function are the underlying causes of many genetic diseases. Some mutations affect the number of expressed proteins while others alter the activity on a per-mol...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S8 -
Using structural bioinformatics to investigate the impact of non synonymous SNPs and disease mutations: scope and limitations
Linking structural effects of mutations to functional outcomes is a major issue in structural bioinformatics, and many tools and studies have shown that specific structural properties such as stability and res...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S9 -
Pairwise and higher-order correlations among drug-resistance mutations in HIV-1 subtype B protease
The reaction of HIV protease to inhibitor therapy is characterized by the emergence of complex mutational patterns which confer drug resistance. The response of HIV protease to drugs often involves both primar...
Citation: BMC Bioinformatics 2009 10(Suppl 8):S10
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