作者
Tarcisio Mendes de Farias, Tatsuya Kushida, Ana C Sima, Christophe Dessimoz, Hirokazu Chiba, Frédéric Bastian, Hiroshi Masuya
发表日期
2023
简介
The BioResource Research Center (BRC) at the Japanese Institute of Physical and Chemical Research (RIKEN) develops and maintains the RIKEN BioResource MetaDatabase. This database integrates several life science datasets to support researchers in making a comprehensive use of RIKEN’s research results. For instance, RIKEN BRC collects, preserves and distributes various bioresources for further scientific research: experimental mouse strains, cultured cell lines and genetic materials of human and animal origin. In this article, we present a case study that mainly combines the RIKEN BioResource MetaDataBase [1] and the Bgee, a multi-species gene expression database [2]. Our use case involves finding the Alzheimer disease (AD) related human genes that are highly expressed in the healthy prefrontal cortex, and the RIKEN’s genetically modified mice related to these genes. Information on the gene expression is obtained from the Bgee database and the human-mouse orthologs from the Orthologous MAtrix (OMA) database [3]. Orthologs are pairs of genes which have evolved from a single gene in the last common ancestor. The DisGeNET dataset provides relationships between disease and human genes [4]. In summary, we combined the four aforementioned data sources by writing the federated SPARQL query at https://purl. org/data-in-use and illustrated in Fig. 1. This query can be executed in the SPARQL endpoint at https://knowledge. brc. riken. jp/sparql. Examples of retrieved results are shown in Table 1. Among them, the APOE gene is highly relevant for AD research as shown in [5]. Furthermore, we evaluated two query …
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