Journal of Proteomics & Bioinformatics
Open Access

Xu Ma

Publications

• Research Article
  VarfromPDB: An Automated and Integrated Tool to Mine Disease-Gene-Variant Relations from the Public Databases and Literature
  Author(s): Zongfu Cao, Lei Wang, Yilu Chen, Ruikun Cai, Jianbo Lu, Yufei Yu, Cuixia Chen, Feng Gu, Juhua Yang and Xu Ma Zongfu Cao, Lei Wang, Yilu Chen, Ruikun Cai, Jianbo Lu, Yufei Yu, Cuixia Chen, Feng Gu, Juhua Yang and Xu Ma
  
  Background: The relationships among phenotypes, genes, and variants play a key role for monogenic disorders in the era of precision medicine. Information about this is erupting with the current rapid development of genomic technology. However, it is time-consuming and error-prone to manually capture the information from the literature. Thus, how to capture this information rapidly and accurately is a bottleneck to be solved. Results: Here, we present VarfromPDB, an automated and integrated method to mine the genes and variants related to a Mendelian disorder from multiple public curated databases and literature. To demonstrate the procedure, feasibility and application, we used a monogenic disorder, Joubert syndrome, as an example to capture the related genes from multiple sources including HPO, OrphaNet, ClinVar, UniProt and PubMed abstract.. View More»
  DOI: 10.4172/jpb.1000455

  Abstract PDF

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