[ExI] Annotation, Interpretation and Management of Mutations

Bryan Bishop kanzure at gmail.com
Fri Jan 16 16:04:28 UTC 2009

---------- Forwarded message ----------
From: Christopher Baker bmcmutations:gmail.com <owner-chemistry at ccl.net>
Date: Thu, Jan 15, 2009 at 10:36 PM
Subject: CCL: BMC Bioinformatics Special Issue: CALL FOR PAPERS - Mutations
To: "Bryan Bishop" <kanzure at gmail.com>

Sent to CCL by: "Christopher  Baker" [bmcmutations:gmail.com]
 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 limited 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 Support
  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 http://www.biomedcentral.com/bmcbioinformatics/ifora/
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*|*unb.ca

* Author instructions can be obtained by sending an email to
bmcmutations*|*gmail.com an automated reply will sent and
complete submissions should also be sent to
bmcmutations*|*gmail.com 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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