論文

査読有り 筆頭著者 責任著者 国際誌
2020年3月3日

An atlas of evidence-based phenotypic associations across the mouse phenome.

Scientific reports
  • Nobuhiko Tanaka
  • ,
  • Hiroshi Masuya

10
1
開始ページ
3957
終了ページ
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41598-020-60891-w

To date, reliable relationships between mammalian phenotypes, based on diagnostic test measurements, have not been reported on a large scale. The purpose of this study was to present a large mouse phenotype-phenotype relationships dataset as a reference resource, alongside detailed evaluation of the resource. We used bias-minimized comprehensive mouse phenotype data and applied association rule mining to a dataset consisting of only binary (normal and abnormal phenotypes) data to determine relationships among phenotypes. We present 3,686 evidence-based significant associations, comprising 345 phenotypes covering 60 biological systems (functions), and evaluate their characteristics in detail. To evaluate the relationships, we defined a set of phenotype-phenotype association pairs (PPAPs) as a module of phenotypic expression for each of the 345 phenotypes. By analyzing each PPAP, we identified phenotype sub-networks consisting of the largest numbers of phenotypes and distinct biological systems. Furthermore, using hierarchical clustering based on phenotype similarities among the 345 PPAPs, we identified seven community types within a putative phenome-wide association network. Moreover, to promote leverage of these data, we developed and published web-application tools. These mouse phenome-wide phenotype-phenotype association data reveal general principles of relationships among mammalian phenotypes and provide a reference resource for biomedical analyses.

リンク情報
DOI
https://doi.org/10.1038/s41598-020-60891-w
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32127602
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054260
ID情報
  • DOI : 10.1038/s41598-020-60891-w
  • PubMed ID : 32127602
  • PubMed Central 記事ID : PMC7054260

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