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

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. | External Organisations University of Sydney; Garvan Institute of Medical Research; Northern Sydney Local Health District; University of South Australia; South Australia Pathology; Queen Elizabeth II Medical Centre Trust | Associated Persons 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); Matilda R. Jackson (Creator); Peer Arts (Creator); Andrew Dubowsky (Creator); Marcel E. Dinger (Creator); Hamish S. Scott (Creator); Emily Oates (Creator); Mark Pinese (Creator); Mark J. Cowley (Creator)