RMVar 2.0: an updated database of functional variants in RNA modifications

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• Genetic variants impact RNA modifications (RMs), crucial for understanding human diseases.
• Previous RMVar database cataloged RM-associated variants in humans and mice.
• Identifying RM-associated variants is key to disease mechanism elucidation.

Purpose of the Study:

• To present RMVar 2.0, an updated database of genetic variants linked to RNA modifications.
• To incorporate novel analytical methods, including allele-specific RNA modification analysis.
• To provide comprehensive annotations for investigating the functional impact of RM-associated variants.

Main Methods:

• Applied an enhanced analytical pipeline to updated RNA modification datasets and genetic variant information.
• Incorporated allele-specific RNA modification analysis for identifying RM-associated variants.
• Integrated data on RNA-binding protein interactions, RNA-RNA interactions, splicing, and circular RNAs.

Main Results:

• RMVar 2.0 identifies RM-associated variants using advanced analytical methods.
• The database includes allele-specific RM analysis, a novel approach.
• Comprehensive annotations facilitate the study of post-transcriptional regulatory effects of variants.

Conclusions:

• RMVar 2.0 enhances the identification and analysis of genetic variants affecting RNA modifications.
• The database provides valuable resources for exploring the link between RMs, genetic variants, and human diseases.
• RMVar 2.0 will advance research into the functional implications of genetic variants in disease contexts.