ABSTRACT

Systematics is described for annotation of variations in RNA molecules. The conceptual framework is part of Variation Ontology (VariO) and facilitates depiction of types of variations, their functional and structural effects and other consequences in any RNA molecule in any organism. There are more than 150 RNA related VariO terms in seven levels, which can be further combined to generate even more complicated and detailed annotations. The terms are described together with examples, usually for variations and effects in human and in diseases. RNA variation type has two subcategories: variation classification and origin with subterms. Altogether six terms are available for function description. Several terms are available for affected RNA properties. The ontology contains also terms for structural description for affected RNA type, post-transcriptional RNA modifications, secondary and tertiary structure effects and RNA sugar variations. Together with the DNA and protein concepts and annotations, RNA terms allow comprehensive description of variations of genetic and non-genetic origin at all possible levels. The VariO annotations are readable both for humans and computer programs for advanced data integration and mining.

摘要

系统学描述了 RNA 分子变异的注释。概念框架是变异本体论 (VariO) 的一部分，有助于描述任何生物体中任何 RNA 分子的变异类型、它们的功能和结构效应以及其他后果。在七个级别中有超过 150 个与 RNA 相关的 VariO 术语，它们可以进一步组合以生成更复杂和详细的注释。这些术语与示例一起描述，通常用于人类和疾病中的变化和影响。RNA变异类型有两个子类别：变异分类和带有子项的起源。共有六个术语可用于功能描述。有几个术语可用于受影响的 RNA 特性。本体还包含对受影响的 RNA 类型进行结构描述的术语，转录后 RNA 修饰、二级和三级结构效应和 RNA 糖变异。连同 DNA 和蛋白质的概念和注释，RNA 术语允许在所有可能的水平上全面描述遗传和非遗传起源的变异。VariO 注释对于高级数据集成和挖掘的人类和计算机程序都是可读的。