Text Mining to Understand Disease-Causing Gene Variants

Abstract

Variations in the genetic code for proteins are considered to confer traits and underlying disease. Identifying the functional consequences of these genetic variants is a challenging endeavor. There are online databases that contain variant information. Many publications also have described variants in detail. Furthermore, there are tools that allow for the prediction of the pathogenicity of variants. However, navigating these disparate sources is time-consuming and sometimes complex. Finally, text mining and large language models offer promising approaches to understanding the textual form of this knowledge. This review discusses these challenges and the online resources and tools available to facilitate this process. Furthermore, a computational framework is suggested to accelerate and facilitate the process of identifying the phenotype caused by a particular genetic variant. This framework demonstrates a way to gather and understand the knowledge about variants more efficiently and effectively.