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RUNES software

Characterization process

 

Variant characterizations are viewable and queryable through a lightweight web application. Characterization is divided into multiple independent stages that each record zero or more annotations for each variant according to the type of characterization being performed by the stage.
 

Variant classifier

 

At the end of characterization, variant annotations are aggregated and submitted to a variant classifier which assigns an American College of Medical Genetics (ACMG) category to each based on the accumulated annotation evidence, with the most damaging category achieved being the final categorization.

 

Software sources

 

Characterization stages use a variety of software and data from both internal and external sources. The stages include: 

  • ENSEMBL Variant Effect Predictor (VEP)

  • Comparison with dbSNP

  • CMH splice impact evaluator

  • CMH transcript context characterizer

  • Comparison with Human Gene Mutation Database (HGMD/GenomeTrax)