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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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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. |
format | Online Article Text |
id | pubmed-9825559 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
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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