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AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.

Véronique Geoffroy1, Thomas Guignard2, Arnaud Kress3

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Summary

AnnotSV is a web server that annotates and ranks human structural variations (SV) to identify pathogenic SV. It integrates numerous data sources and provides visualization tools for diagnostic and research applications.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Pangenomic analysis generates vast genomic data, including millions of small variants and thousands of structural variations (SV).
  • Interpreting the clinical significance of identified SVs remains a significant challenge in human genetics.
  • Accurate SV interpretation is crucial for diagnosing genetic disorders.

Purpose of the Study:

  • To develop a comprehensive web server, AnnotSV, for the annotation, ranking, visualization, and interpretation of human structural variations (SV).
  • To facilitate the identification of pathogenic SVs in clinical diagnostics and research.

Main Methods:

  • Development of a web server integrating >20 annotation sources (genes, regulatory elements, phenotypic data, etc.).
  • Implementation of an ACMG/ClinGen compliant prioritization module for SV classification (pathogenic to benign).
  • Creation of an interactive visualization interface (knotAnnotSV) with search, filtering, and external database linking.

Main Results:

  • AnnotSV integrates diverse genomic annotations to aid SV interpretation.
  • The prioritization module effectively scores and ranks SVs based on pathogenicity.
  • The visualization tool enhances the interactive exploration of annotated SVs.

Conclusions:

  • AnnotSV provides a valuable resource for human geneticists and diagnostic laboratories.
  • The web server streamlines the interpretation of structural variations, aiding in the identification of pathogenic SVs.
  • AnnotSV supports both diagnostic and research applications by offering integrated annotation and visualization tools.