Current trend of annotating single nucleotide variation in humans--A case study on SNVrap

Area of Science:

• Genomics
• Bioinformatics
• Human Genetics

Background:

• High-throughput sequencing methods (e.g., whole exome sequencing, whole genome sequencing) identify numerous genetic variants associated with human diseases.
• Functional annotation of these variants is crucial for understanding disease etiology.
• Large-scale functional genomics projects provide valuable genome-wide data for variant interpretation.

Purpose of the Study:

• To review current progress and trends in the field of genetic variant annotation.
• To introduce SNVrap, a comprehensive web portal for annotating human genetic variants.
• To provide a tool for identifying disease-causal variants through functional annotation.

Main Methods:

• Utilized gene-based features and the latest functional genomics datasets for whole-genome annotation of single nucleotide variations (SNVs).
• Applied multiple function prediction algorithms to assess the potential impact of SNVs on various biological processes.
• Developed a comprehensive web portal (SNVrap) for accessible variant annotation.

Main Results:

• The SNVrap portal enables whole-genome scale annotation of human SNVs.
• Annotation includes impacts on transcriptional gene regulation, alternative splicing, and post-transcriptional/translational modifications.
• The tool integrates diverse functional genomics data for comprehensive variant interpretation.

Conclusions:

• There is a high demand for comprehensive and user-friendly variant annotation tools to aid in disease research.
• SNVrap provides a valuable resource for annotating human genetic variants and predicting their functional consequences.
• The portal facilitates the identification of potentially disease-causing SNVs by leveraging extensive functional genomics data.