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[Gofriends] BMC Bioinformatics Special Issue: CALL FOR PAPERS - Mutations

Christopher Baker bmcmutations at
Thu Jan 15 16:23:29 PST 2009


 BMC Bioinformatics Special Issue: CALL FOR PAPERS


 A special issue of the Journal will showcase original

 papers that address themes relevant to the:

 Annotation, Interpretation and Management of Mutations

 Mutations play a key role in the understanding of genetic mechanisms

 and complex diseases. A number of bioinformatics initiatives gather

 and store mutational relevant information (OMIM, GAD, HapMap, 1000

 Genomces project, COSMIC, UniProtKb, PDB), but the challenge for

 data integration initiatives is to facilitate the interpretion

 of phenotypic / impact changes induced by the mutations. Solutions are

 required in the domains of:

 (i) text mining - for the identification of phenotypic / impact


 (ii) data warehousing and machine learning – to allow better

 integration of mutation relevant information into a bioinformatics

 infrastructure (e.g., ontologies, workflows, databases, machine

 learning techniques). Synergistic use of these technologies should

 facilitate inferences of knowledge from sequence to structure to

 function and to phenotypes. Authors may also focus on methods for

 the prediction of phenotypic effects induced by mutations,

 infrastructure to support clinical decision processes involving

 mutations as well as the management and aggregation of mutations

 with annotations from different digital or text resources.

 Suggested themes (but not limted to):

 -             Mutation Databases and Metadata: Design, Content, Accuracy.

 -             Extraction of mutations and annotations from literature

 -             Methods and systems for predicting the impacts of Mutations

 -             Mutation Data Integration, Phenotype Ontologies, Semantic

 and Reuse

 Published manuscripts will include a clear and motivating description

 of the specific challenge and biological context that they address

 and a lucid illustration of the proposed solution.

 Article-processing charges:


 Please note that the standard BMC Bioinformatics publication

 processing fees apply to submissions to this special issue.

 Please refer to

 for further information.

 Important Dates:


 Submissions open: Dec 25th 2008

 Submissions due*: February 14th 2009

 Revised manuscript submitted: March 31st 2009



 Pre-submission enquiries and variations to the deadlines above may be

 made in consultation with the Special Issue Editor bakerc at

 * Author instructions can be obtained by sending an email to

 bmcmutations at an automated reply will sent and

 complete submissions should also be sent to

 bmcmutations at but with AIMM in the subject line.

 Special Issue Editors:


 Christopher J. O. Baker - University of New Brunswick, Canada

 Dietrich Rebholz-Schuhmann, European Bioinformatics Institute, UK
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