Enter a variant below to see its
SpliceAI
scores. This can be any SNV or simple InDel within an exon or intron defined by GENCODE v38.
more details...
This web interface and the underlying
SpliceAI server
are being developed by the
TGG
at the
Broad Institute
.
The SpliceAI server optionally uses pre-computed scores provided by Illumina for SNVs and small InDels, but resorts to running the SpliceAI model directly for scores not available in the pre-computed files - such as larger InDels or non-default "Max distance" values.
NOTE: The API currently only supports interactive use. For automated batch processing, please use the source code to set up your own source code to set up your own local instance of the API server or just run the underlying SpliceAI tool.
For more information on the SpliceAI model, see Jaganathan et al, Cell 2019 and github.com/Illumina/SpliceAI , as well as in this recorded talk by Kishore Jaganathan.
The SpliceAI server optionally uses pre-computed scores provided by Illumina for SNVs and small InDels, but resorts to running the SpliceAI model directly for scores not available in the pre-computed files - such as larger InDels or non-default "Max distance" values.
NOTE: The API currently only supports interactive use. For automated batch processing, please use the source code to set up your own source code to set up your own local instance of the API server or just run the underlying SpliceAI tool.
For more information on the SpliceAI model, see Jaganathan et al, Cell 2019 and github.com/Illumina/SpliceAI , as well as in this recorded talk by Kishore Jaganathan.
| chr8-140300616-T-G |
| chr8 140300616 T G |
| NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) |
more examples...
| 8:140300616 T>G | 'chr' prefix is optional |
| 1:930130:C:G | position with overlapping genes |
| 1-1042601-A-AGAGAG | insertion of GAGAG |
| 1-1042466-GGGC-G | deletion of GGC |
| NM_000249.4(MLH1):c.116G>A | another HGVS exapmle |