articleNucleic Acids ResearchOct 28, 2022GOLD OA

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease

European Bioinformatics Institute · Queen Mary University of London · +3 more institutions

PubMed
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Abstract

The International Mouse Phenotyping Consortium (IMPC; https://www.mousephenotype.org/) web portal makes available curated, integrated and analysed knockout mouse phenotyping data generated by the IMPC project consisting of 85M data points and over 95,000 statistically significant phenotype hits mapped to human diseases. The IMPC portal delivers a substantial reference dataset that supports the enrichment of various domain-specific projects and databases, as well as the wider research and clinical community, where the IMPC genotype-phenotype knowledge contributes to the molecular diagnosis of patients affected by rare disorders. Data from 9,000 mouse lines and 750 000 images provides vital resources enabling…

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Authors

17

Topics & keywords

Keywords
  • Biology
  • Underpinning
  • Human disease
  • Disease
  • Computational biology
  • Genetics
  • Gene
  • Pathology
UN Sustainable Development Goals
  • Partnerships for the goals
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