The AnnotSV webserver in 2023: updated visualization and ranking

Area of Science:

• Human Genetics
• Genomic Variation Analysis
• Bioinformatics

Background:

• Structural variants (SV) constitute a significant portion of human genetic variation, alongside single nucleotide variants (SNV) and small insertion/deletions (indels).
• Detecting and interpreting SVs is challenging due to the need for diverse technologies and appropriate resolution, often requiring whole genome sequencing.
• The increasing volume of SV data from pangenomic analyses presents interpretation challenges for human geneticists.

Purpose of the Study:

• To present the AnnotSV webserver as an efficient tool for annotating and interpreting the pathogenicity of structural variants (SV) in the context of human diseases.
• To assist in identifying potential false positive variants among identified SVs.
• To provide visualization tools for a patient's SV repertoire.

Main Methods:

• The AnnotSV webserver integrates updated annotation sources and ranking systems.
• It offers three novel output formats to facilitate diverse downstream analyses and pipeline integration.
• New user interfaces include an interactive Circos view for enhanced visualization of SV data.

Main Results:

• The AnnotSV webserver provides updated annotation sources and ranking for SV interpretation.
• Novel output formats and interactive visualization tools have been implemented.
• The tool aims to streamline the interpretation of complex SV data.

Conclusions:

• The AnnotSV webserver offers an efficient solution for annotating, interpreting, and visualizing structural variants.
• It addresses the challenges associated with the growing volume of SV data in human genetics.
• The updated features enhance the utility of AnnotSV for disease association studies and variant analysis pipelines.