Additional file 1: Table S1. of GAVIN: Gene-Aware Variant INterpretation for medical sequencing

Dataset

Description

GAVIN gene-specific thresholds used in the benchmark. This table can be used to look up thresholds of individual genes and allow variant interpretation by following classification rules as indicated by the column names and provided explanation. (XLSX 198 kb)
Date made available16-Jan-2017
Publisherfigshare

Keywords on Datasets

  • Clinical next-generation sequencing
  • Variant classification
  • Automated protocol
  • Gene-specific calibration
  • Allele frequency
  • Protein impact
  • Pathogenicity prediction

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