4.8 Article

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

期刊

NUCLEIC ACIDS RESEARCH
卷 51, 期 D1, 页码 D1038-D1045

出版社

OXFORD UNIV PRESS
DOI: 10.1093/nar/gkac972

关键词

-

向作者/读者索取更多资源

The International Mouse Phenotyping Consortium (IMPC) website provides a curated and analyzed platform for knockout mouse phenotyping data, which is valuable for molecular diagnosis and gene function research in rare diseases. The data and materials have been widely used in over 4,600 publications, indicating their significance.
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.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.8
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据