Additional file 1 of Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

  • Patricia J. Sullivan (Creator)
  • Velimir Gayevskiy (Creator)
  • Ryan L. Davis (Creator)
  • Marie Wong (Creator)
  • Chelsea Mayoh (Creator)
  • Amali Mallawaarachchi (Creator)
  • Yvonne Hort (Creator)
  • Mark J. McCabe (Creator)
  • Sarah Beecroft (Creator)
  • Matilda Jackson (Creator)
  • Peer Arts (Creator)
  • Andrew Dubowsky (Creator)
  • Nigel Laing (Creator)
  • Marcel Dinger (Creator)
  • Hamish Scott (Creator)
  • Emily C. Oates (Creator)
  • Mark Pinese (Creator)
  • Mark Cowley (Creator)

Dataset

Description

Additional file 1: Table S1. Experimentally validated variants from SpliceVarDB used to train and test Introme. Table S2. Variants experimentally validated using RT-PCR for splice-altering changes by SA Pathology. Table S3. Features in Introme. Table S4. Variants used for allele frequency assessment.
Date made available17 May 2023
PublisherFigshare

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