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

Autor:	Groza T; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Gomez FL; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Mashhadi HH; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Muñoz-Fuentes V; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Gunes O; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Wilson R; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK., Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Frost A; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., Keskivali-Bond P; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., Vardal B; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., McCoy A; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., Cheng TK; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., Santos L; Research Data Team, The Turing Institute, 96 Euston Rd, London NW1 2DB, UK., Wells S; Mary Lyon Centre at MRC Harwell, Harwell Campus OX11 7UE, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK., Mallon AM; Research Data Team, The Turing Institute, 96 Euston Rd, London NW1 2DB, UK., Parkinson H; European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK.
Jazyk:	angličtina
Zdroj:	Nucleic acids research [Nucleic Acids Res] 2023 Jan 06; Vol. 51 (D1), pp. D1038-D1045.
DOI:	10.1093/nar/gkac972
Abstrakt:	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. (© The Author(s) 2022. Published by Oxford University Press on behalf of Nucleic Acids Research.)
Databáze:	MEDLINE
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