Variation ontology: annotator guide.

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Abstract

Systematic representation of information related to genetic and non-genetic variations is required to allow large scale studies, data mining and data integration, and to make it possible to reveal novel relationships between genotype and phenotype. Although lots of variation data is available it is often difficult to use due to lack of systematics.
Original languageEnglish
Article number9
JournalJournal of Biomedical Semantics
Volume5
Issue number1
DOIs
Publication statusPublished - 2014

Subject classification (UKÄ)

  • Medical Genetics and Genomics (including Gene Therapy)

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