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

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 mapp...

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Autores principales: Groza, Tudor, Gomez, Federico Lopez, Mashhadi, Hamed Haseli, Muñoz-Fuentes, Violeta, Gunes, Osman, Wilson, Robert, Cacheiro, Pilar, Frost, Anthony, Keskivali-Bond, Piia, Vardal, Bora, McCoy, Aaron, Cheng, Tsz Kwan, Santos, Luis, Wells, Sara, Smedley, Damian, Mallon, Ann-Marie, Parkinson, Helen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825559/
https://www.ncbi.nlm.nih.gov/pubmed/36305825
http://dx.doi.org/10.1093/nar/gkac972
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author Groza, Tudor
Gomez, Federico Lopez
Mashhadi, Hamed Haseli
Muñoz-Fuentes, Violeta
Gunes, Osman
Wilson, Robert
Cacheiro, Pilar
Frost, Anthony
Keskivali-Bond, Piia
Vardal, Bora
McCoy, Aaron
Cheng, Tsz Kwan
Santos, Luis
Wells, Sara
Smedley, Damian
Mallon, Ann-Marie
Parkinson, Helen
author_facet Groza, Tudor
Gomez, Federico Lopez
Mashhadi, Hamed Haseli
Muñoz-Fuentes, Violeta
Gunes, Osman
Wilson, Robert
Cacheiro, Pilar
Frost, Anthony
Keskivali-Bond, Piia
Vardal, Bora
McCoy, Aaron
Cheng, Tsz Kwan
Santos, Luis
Wells, Sara
Smedley, Damian
Mallon, Ann-Marie
Parkinson, Helen
author_sort Groza, Tudor
collection PubMed
description 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.
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spelling pubmed-98255592023-01-10 The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease Groza, Tudor Gomez, Federico Lopez Mashhadi, Hamed Haseli Muñoz-Fuentes, Violeta Gunes, Osman Wilson, Robert Cacheiro, Pilar Frost, Anthony Keskivali-Bond, Piia Vardal, Bora McCoy, Aaron Cheng, Tsz Kwan Santos, Luis Wells, Sara Smedley, Damian Mallon, Ann-Marie Parkinson, Helen Nucleic Acids Res Database Issue 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. Oxford University Press 2022-10-28 /pmc/articles/PMC9825559/ /pubmed/36305825 http://dx.doi.org/10.1093/nar/gkac972 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of Nucleic Acids Research. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Database Issue
Groza, Tudor
Gomez, Federico Lopez
Mashhadi, Hamed Haseli
Muñoz-Fuentes, Violeta
Gunes, Osman
Wilson, Robert
Cacheiro, Pilar
Frost, Anthony
Keskivali-Bond, Piia
Vardal, Bora
McCoy, Aaron
Cheng, Tsz Kwan
Santos, Luis
Wells, Sara
Smedley, Damian
Mallon, Ann-Marie
Parkinson, Helen
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title_full The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title_fullStr The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title_full_unstemmed The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title_short The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
title_sort international mouse phenotyping consortium: comprehensive knockout phenotyping underpinning the study of human disease
topic Database Issue
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825559/
https://www.ncbi.nlm.nih.gov/pubmed/36305825
http://dx.doi.org/10.1093/nar/gkac972
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