LOFTEE

Summary: A VEP plugin to identify LoF (loss-of-function) variation

Contributor(s): Konrad Karczewski

Description: LOFTEE (Loss-Of-Function Transcript Effect Estimator) is a plugin for the Ensembl Variant Effect Predictor (VEP) to identify LoF (loss-of-function) variation.

It currently assesses variants that are:

  • Stop-gained
  • Splice site disrupting
  • Frameshift variants

Download URLhttps://github.com/konradjk/loftee

Licence: Apache 2.0

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