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Use Cases for Phenotypes

The following use cases were developed by the Phenotypes group.

This use cases apply to the following biological types: “phenotype”.

The International Mouse Phenotyping Consortium (IMPC) is systematically generating mouse knockouts for every protein-coding gene in the mouse genome (approx. 20,000 genes) and carries out high-throughput phenotyping of each line in order to determine gene function by determining the biological systems affected in the absence of the gene. This dataset contains all the genotype-to-phenotype associations, protocols, parameters and measurements currently generated using this approach. For the IMPC, and other similar consortiums, is important to make their Gene-Phenotype associations findable from the Phenotype perspective. In order to achieve this a Phenotype profile should fulfill the following requirements:* It should make explicit the relation between a Gene and a Phenotype and specify if the association is significant or not (Does the presence of the Gene A is significant on the occurrence of the Phenotype B?)