Papatheodorou Irene, Oellrich Anika, Smedley Damian
Mouse Developmental Genetics, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, CB1 10SA, Hinxton, UK.
J Biomed Semantics. 2015 Apr 11;6:17. doi: 10.1186/s13326-015-0013-5. eCollection 2015.
Establishing robust links among gene expression, pathways and phenotypes is critical for understanding diseases and developing treatments. In recent years there have been many efforts to develop the computational means to traverse from genes to gene expression, model pathways and classify phenotypes. Numerous ontologies and other controlled vocabularies have been developed, as well as computational methods to combine and mine these data sets and establish connections. Here we discuss these efforts and identify areas of future work that could lead to a better integration of genes, pathways and phenotypes to provide insights into the mechanisms under which gene mutations affect expression and pathways and how these effects are manifested onto the phenotype.
在基因表达、信号通路和表型之间建立稳固的联系对于理解疾病和开发治疗方法至关重要。近年来，人们做出了许多努力来开发计算方法，以便从基因过渡到基因表达、构建信号通路模型并对表型进行分类。已经开发了众多本体论和其他受控词汇表，以及用于合并和挖掘这些数据集并建立联系的计算方法。在此，我们讨论这些努力，并确定未来工作的领域，这些领域可能会促成基因、信号通路和表型的更好整合，从而深入了解基因突变影响表达和信号通路的机制，以及这些影响如何在表型上体现出来。
