Human Mutation · 2000 · 15 citations · 15 references
Life SciencesBioinformaticsMolecular GeneticsGenomic InformaticsGenomicsSequence AnalysisDna SequencingGenomic Data IntegrationGenomic DatabasesGenomic VariationMutation AnalysisVariant AnalysisCross-referencingData Cross-referencingDocument Cross-referencingIntellectual Property Rights ManagementMutationSequence ComparisonVariant Data IntegrationVariant Discovery
The sequence variation project at EBI aims to create a unified resource for browsing and searching sequence differences. Technical advances in reading in new data types and in validating and cross-referencing entries are reported. It is suggested that the hardest problems in unifying mutation databases are related to intellectual property rights. The concept of copylefting is introduced as a potential solution to these.
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Online Mendelian Inheritance In Man (OMIM)
Ada Hamosh, Joanna Amberger, David Valle‐García et al. · Human Mutation · 2000 · 1.2K citations · Full text