European Bioinformatics Institute, European Molecular Biology Laboratory, Welcome Genome Campus, Hinxton CB10 1SD, UK.
William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
Nucleic Acids Res. 2023 Jan 6;51(D1):D1038-D1045. doi: 10.1093/nar/gkac972.
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.
国际小鼠表型分析联盟（IMPC；https://www.mousephenotype.org/）的网络门户提供了经过精心整理、整合和分析的 knockout 小鼠表型数据，这些数据由 IMPC 项目生成，包含 8500 万个数据点和超过 95000 个与人类疾病相关的具有统计学意义的表型命中。IMPC 门户提供了一个重要的参考数据集，支持各种特定领域项目和数据库的丰富，以及更广泛的研究和临床社区，其中 IMPC 的基因型-表型知识有助于对受罕见疾病影响的患者进行分子诊断。来自 9000 条小鼠品系和 75 万张图像的数据提供了重要的资源，使我们能够解释 ignorome，并增进我们对哺乳动物基因功能和与人类疾病相关表型的机制的认识。该资源得到了广泛的整合，这些品系已被用于超过 4600 篇出版物中，这表明了数据和材料的价值。
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