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AnnotSV: an integrated tool for structural variations annotation.

Véronique Geoffroy1, Yvan Herenger2, Arnaud Kress3

  • 1Laboratoire de Génétique Médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine FMTS, Université de Strasbourg, Strasbourg, France.

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|April 19, 2018
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Summary
This summary is machine-generated.

AnnotSV is a new tool that helps researchers interpret structural variations (SV) in the human genome. It quickly annotates SVs with functional and clinical data, aiding disease research and filtering false positives.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Structural Variations (SV) are key to human genome variability and evolution.
  • SV are implicated in numerous human diseases, necessitating accurate detection and interpretation.
  • Existing methods may lack comprehensive annotation for pathogenicity and false positive filtering.

Purpose of the Study:

  • To develop AnnotSV, a tool for comprehensive annotation of structural variations.
  • To aid in the interpretation of SV pathogenicity and the filtering of false positives.
  • To integrate functional, regulatory, and clinical information for SV analysis.

Main Methods:

  • AnnotSV compiles functional, regulatory, and clinical data for SV annotation.
  • It reports heterozygous and homozygous counts for SNVs and indels within SVs.
  • Allelic frequencies relative to DGV variants are computed to filter common SVs.

Main Results:

  • AnnotSV successfully annotated 4751 SVs from a 1000 Genomes Project sample in under 60 seconds.
  • The tool integrated information from four million SNV/indels.
  • The annotations provided support for SV existence and facilitated filtering of common variants.

Conclusions:

  • AnnotSV offers efficient and comprehensive annotation of structural variations.
  • The tool enhances the biological interpretation of SVs, particularly regarding pathogenicity.
  • AnnotSV aids in distinguishing disease-relevant SVs from common variations.