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A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potenti...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260762/ https://www.ncbi.nlm.nih.gov/pubmed/30477555 http://dx.doi.org/10.1186/s13023-018-0955-7 |
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author | Thompson, Rachel Abicht, Angela Beeson, David Engel, Andrew G. Eymard, Bruno Maxime, Emmanuel Lochmüller, Hanns |
author_facet | Thompson, Rachel Abicht, Angela Beeson, David Engel, Andrew G. Eymard, Bruno Maxime, Emmanuel Lochmüller, Hanns |
author_sort | Thompson, Rachel |
collection | PubMed |
description | BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potential treatments for the known CMS entities, the lack of standardized classification at the most granular level has hindered the implementation of computer-based systems for knowledge capture and reuse. Where individual clinical or genetic entities do not exist in disease coding systems, they are often invisible in clinical records and inadequately annotated in information systems, and features that apply to one disease but not another cannot be adequately differentiated. RESULTS: We created a detailed classification of all CMS disease entities suitable for use in clinical and genetic databases and decision support systems. To avoid conflict with existing coding systems as well as with expert-defined group-level classifications, we developed a collaboration with the Orphanet nomenclature for rare diseases, creating a clinically understandable name for each entity and placing it within a logical hierarchy that paves the way towards computer-aided clinical systems and improved knowledge bases for CMS that can adequately differentiate between types and ascribe relevant expert knowledge to each. CONCLUSIONS: We suggest that data science approaches can be used effectively in the clinical domain in a way that does not disrupt preexisting expert classification and that enhances the utility of existing coding systems. Our classification provides a comprehensive view of the individual CMS entities in a manner that supports differential diagnosis and understanding of the range and heterogeneity of the disease but that also enables robust computational coding and hierarchy for machine-readability. It can be extended as required in the light of future scientific advances, but already provides the starting point for the creation of FAIR (Findable, Accessible, Interoperable and Reusable) knowledge bases of data on the congenital myasthenic syndromes. |
format | Online Article Text |
id | pubmed-6260762 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-62607622018-12-10 A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era Thompson, Rachel Abicht, Angela Beeson, David Engel, Andrew G. Eymard, Bruno Maxime, Emmanuel Lochmüller, Hanns Orphanet J Rare Dis Research BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic origins, specific features and potential treatments for the known CMS entities, the lack of standardized classification at the most granular level has hindered the implementation of computer-based systems for knowledge capture and reuse. Where individual clinical or genetic entities do not exist in disease coding systems, they are often invisible in clinical records and inadequately annotated in information systems, and features that apply to one disease but not another cannot be adequately differentiated. RESULTS: We created a detailed classification of all CMS disease entities suitable for use in clinical and genetic databases and decision support systems. To avoid conflict with existing coding systems as well as with expert-defined group-level classifications, we developed a collaboration with the Orphanet nomenclature for rare diseases, creating a clinically understandable name for each entity and placing it within a logical hierarchy that paves the way towards computer-aided clinical systems and improved knowledge bases for CMS that can adequately differentiate between types and ascribe relevant expert knowledge to each. CONCLUSIONS: We suggest that data science approaches can be used effectively in the clinical domain in a way that does not disrupt preexisting expert classification and that enhances the utility of existing coding systems. Our classification provides a comprehensive view of the individual CMS entities in a manner that supports differential diagnosis and understanding of the range and heterogeneity of the disease but that also enables robust computational coding and hierarchy for machine-readability. It can be extended as required in the light of future scientific advances, but already provides the starting point for the creation of FAIR (Findable, Accessible, Interoperable and Reusable) knowledge bases of data on the congenital myasthenic syndromes. BioMed Central 2018-11-26 /pmc/articles/PMC6260762/ /pubmed/30477555 http://dx.doi.org/10.1186/s13023-018-0955-7 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Thompson, Rachel Abicht, Angela Beeson, David Engel, Andrew G. Eymard, Bruno Maxime, Emmanuel Lochmüller, Hanns A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title | A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title_full | A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title_fullStr | A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title_full_unstemmed | A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title_short | A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era |
title_sort | nomenclature and classification for the congenital myasthenic syndromes: preparing for fair data in the genomic era |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260762/ https://www.ncbi.nlm.nih.gov/pubmed/30477555 http://dx.doi.org/10.1186/s13023-018-0955-7 |
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