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Interpretable prioritization of splice variants in diagnostic next-generation sequencing

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SQUIRLS

GitHub release Java CI with Maven Documentation Status

Super-quick Information Content and Random Forest Learning for Splice Variants

Most users should download the latest Squirls 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 Squirls manuscript in The American Journal of Human Genetics.

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Interpretable prioritization of splice variants in diagnostic next-generation sequencing

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