Table 4.
Discrepant prediction between SpliceAI and MES/SSF.
| Variant Region | Discrepant Prediction SpliceAI/MES/SSF |
Number of Variants | Splice +/− Identified by cDNA and gDNA Seq 1 |
|---|---|---|---|
| Exon | −/+ | 31 | 0/31 |
| +/− | 9 | 3/6 | |
| Canonial splice-site | −/+ | 0 | 0/0 |
| +/− | 3 | 3/0 | |
| Non-canonical intronic region | −/+ | 0 | 0/0 |
| +/− | 2 | 2/0 | |
| Total | −/+ | 31 | 0/31 |
| +/− | 14 | 8/6 |
1 Splice + denotes splicing alteration was confirmed by cDNA sequencing followed by gDNA sequencing, while Splice − denotes splicing alteration was not observed. Abbreviations: MES, MaxEntScan; SSF, Splice-Site Finder-like; cDNA, complementary DNA; gDNA, genomic DNA; Seq, sequencing analysis.