Guidelines for establishing locus specific databases
Autor: | Johan T. den Dunnen, Raymond Dalgleish, Mauno Vihinen, Richard G.H. Cotton |
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Rok vydání: | 2011 |
Předmět: |
data collection
Information Dissemination Guidelines as Topic Locus (genetics) Documentation Biology External Data Representation computer.software_genre Data modeling 03 medical and health sciences Databases Genetic distribution Genetics Humans guidelines Genetic Association Studies Genetics (clinical) 030304 developmental biology 0303 health sciences Data collection Ethical issues Database 030305 genetics & heredity Computational Biology variation database curation Genes Genetic Loci Database Management Systems LSDB computer |
Zdroj: | Human Mutation, 33(2), 298-305 Human Mutation Human Mutation; Vol 33 |
ISSN: | 1059-7794 |
DOI: | 10.1002/humu.21646 |
Popis: | Information about genetic variation has been collected for some 20 years into registries, known as locus specific databases (LSDBs), which nowadays often contain information in addition to the actual genetic variation. Several issues have to be taken into account when considering establishing and maintaining LSDBs and these have been discussed previously in a number of articles describing guidelines and recommendations. This information is widely scattered and, for a newcomer, it would be difficult to obtain the latest information and guidance. Here, a sequence of steps essential for establishing an LSDB is discussed together with guidelines for each step. Curators need to collect information from various sources, code it in systematic way, and distribute to the research and clinical communities. In doing this, ethical issues have to be taken into account. To facilitate integration of information to, for example, analyze genotype-phenotype correlations, systematic data representation using established nomenclatures, data models, and ontologies is essential. LSDB curation and maintenance comprises a number of tasks that can be managed by following logical steps. These resources are becoming ever more important and new curators are essential to ensure that we will have expertly curated databases for all disease-related genes in the near future. |
Databáze: | OpenAIRE |
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