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

被引:194
作者
Groza, Tudor [1 ]
Gomez, Federico Lopez [1 ]
Mashhadi, Hamed Haseli [1 ]
Munoz-Fuentes, Violeta [1 ]
Gunes, Osman [1 ]
Wilson, Robert [1 ]
Cacheiro, Pilar [2 ]
Frost, Anthony [3 ]
Keskivali-Bond, Piia [3 ]
Vardal, Bora [3 ]
McCoy, Aaron [3 ]
Cheng, Tsz Kwan [3 ]
Santos, Luis [4 ]
Wells, Sara [3 ]
Smedley, Damian [2 ]
Mallon, Ann-Marie [4 ]
Parkinson, Helen [1 ]
机构
[1] European Bioinformat Inst, European Mol Biol Lab, Welcome Genome Campus, Hinxton CB10 1SD, England
[2] Queen Mary Univ London, William Harvey Res Inst, London EC1M 6BQ, England
[3] MRC Harwell, Mary Lyon Ctr, Harwell Campus, Harwell, Berks, England
[4] Turing Inst, Res Data Team, 96 Euston Rd, London NW1 2DB, England
基金
美国国家卫生研究院;
关键词
GENOME; MICE; DISCOVERY; REVEALS; SCREENS;
D O I
10.1093/nar/gkac972
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:D1038 / D1045
页数:8
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