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Illumina Inc. |

SpliceAI

6
3
Omics
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Step 1: Upload your data

Upload VCF File

Drag your file(s) or upload
  • Your file can be in the following formats:vcf
    • The app accepts a VCF file as input. VCF stands for Variant Call Format. It is a text file format that is used to represent SNP, indel, and structural variation calls.
or
Don’t have a file?
Use our demo data to run
Use Demo Data
Step 2: Set Parameters
HG19
Step 3: Complete run profile

Pre-mRNAs are spliced into mature transcripts with extraordinary precision, but it is still unclear how the cellular machinery manages to be so particular. SpliceAI is a deep residual neural network that just requires the genomic sequence of the pre-mRNA transcript as input to predict whether each point in a pre-mRNA transcript is a splice donor, acceptor, or neither.

Example use case: Predicting splice variants

Technology: Deep Neural Network (DNN)

Limitation: Some of the parameters are kept as default. Please check this page for more information.

Metrics: Some of the metrics related to work can be found in the article.

Citation:
Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, et al. Predicting Splicing from Primary Sequence with Deep Learning. Cell. 2019;176(3):535-548.e24. doi:10.1016/j.cell.2018.12.015
Released:
Dec-15-2022
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