Genomic Variant Annotation: A Comprehensive Review of Tools and Techniques

Abstract

Variant annotation is the process by which variants and mutations in the DNA are assigned functional information and is a crucial process in genomic sequence analysis. The outcomes of such annotation are beneficial because they can directly influence the conclusions arrived at in disease studies. Once genomic sequencing data is processed, and variants are called, it is vital to recognise the functional content of this data and then analyse the data to prioritise these variants. This is an interesting problem in the computational biology field and presents many open challenges that are yet to be addressed. In this paper, a comprehensive review of current work addressing the problem of variant annotation is presented. We detail the various tools and methods that have been developed for variant annotation along with datasets that have been used by these methods. Insights on open challenges and directions for future research are also discussed. © 2022, The Author(s), under exclusive license to Springer Nature Switzerland AG.