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The AnnotSV webserver in 2023: updated visualization and ranking.

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Structural variants (SV) are a significant part of human DNA. The AnnotSV webserver aids in interpreting these complex genetic variations and their link to diseases.

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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.