The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
Tudor GrozaFederico Lopez GomezHamed Haseli MashhadiVioleta Muñoz-FuentesOsman GunesRobert WilsonPilar CacheiroAnthony FrostPiia Keskivali-BondBora VardalAaron McCoyTsz Kwan ChengLuis SantosSara WellsDamian SmedleyAnn-Marie MallonHelen ParkinsonPublished in: Nucleic acids research (2022)
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 the interpretation of the ignorome, and advancing our knowledge on mammalian gene function and the mechanisms underlying phenotypes associated with human diseases. The resource is widely integrated and the lines have been used in over 4,600 publications indicating the value of the data and the materials.
Keyphrases
- endothelial cells
- electronic health record
- big data
- high throughput
- healthcare
- induced pluripotent stem cells
- end stage renal disease
- quality improvement
- newly diagnosed
- mental health
- ejection fraction
- gene expression
- prognostic factors
- peritoneal dialysis
- copy number
- machine learning
- convolutional neural network
- single cell