Squirls

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

This application performs prediction of deleteriousness of genomic variants with respect to mRNA splicing.

Contents:

• Set up Squirls
  • Squirls downloadable resources
  • Build Squirls from source
• Run Squirls
  • annotate-pos - Annotate variant positions
  • annotate-csv - Annotate variant positions stored in a CSV file
  • annotate-vcf - Annotate variants in a VCF file
  • precalculate - Precalculate SQUIRLS scores
• Output formats
  • HTML output format
  • VCF output format
  • CSV/TSV output format
• Result interpretation
  • Variant categories
  • Figure types
• Squirls anatomy
  • Splice features
  • Random forest estimators
  • Logistic regression
  • Glossary
• Use Squirls as a library
  • Install Squirls modules into your local Maven repository
  • Bootstrap Squirls
  • Spring Boot application