As a previous author I would like to invite you to submit your manuscript to a new thematic series, entitled, 'Annotation, Interpretation and Management of Mutations'.
This timely thematic series will be edited by a joint Editorial Board of Journal of Biomedical Semantics and BMC Bioinformatics and will be published across these journals.
Annotation of mutations with their impact on phenotypic expression is crucial to understanding genetic mechanisms involved in phenotypic processes and ultimately in complex diseases. This knowledge is the key to generating and testing novel hypotheses. And yet, despite the existence of literature, curated databases describing the impacts of mutations and phenotype ontologies, many association studies fail to deliver linkage to phenotypes. The infrastructure to support the synthesis of mutation annotations to usable knowledge continues to evolve but further innovations are equired.
This series will specifically focus on state of the art research in the extraction, storage and reuse of genotype-phenotype information including perspectives on new formatting standards, methodologies and infrastructure facilitating mutation data management and analysis.
Potential topics include, but are not limited to:
- Mutation nomenclature, databases and metadata: design, content, accuracy.
- Extraction of mutations and annotations from literature.
- Impacts of mutations: prediction and bootstrapping.
- Mutation data integration, phenotype ontologies, semantic support and reuse.
Submission of original research, methodology, software, and database
articles are encouraged.
Please submit your manuscript via either Journal of Biomedical Semantics or BMC Bioinformatics indicating within your cover letter that you wish your manuscript to be considered as part of the 'Annotation, Interpretation and Management of Mutations' thematic series. Feel free to direct pre-submission enquiries to the thematic series editor Christopher Baker.
Christopher J. O. Baker, Associate Editor for BMC Bioinformatics and Journal of Biomedical Semantics (University of New Brunswick, Canada)
Dietrich Rebholz-Schuhmann, Editor-in-Chief of Journal of
Biomedical Semantics (European Bioinformatics Institute, UK)
Submit an article | Editorial Board | Instructions for authors | Sign up for article alerts