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Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

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SvAnna - Structural Variant Annotation and Analysis

GitHub release Java CI with Maven Documentation Status

Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing.

Most users should download the latest SvAnna distribution ZIP file from the Releases page.

Please consult the Read the docs site for detailed documentation:

  • stable version describing the latest release at the Releases page, or
  • latest version summarizing the latest development on development branch.

Check out SvAnna manuscript in Genome Medicine.

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Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

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