SpliceAI-visual

SpliceAI-visual provides interpretation of splice-altering genetic variants by using raw SpliceAI scores to improve annotation of complex variants such as complex deletions-insertions (delins).

Key Features:

• Raw Score Utilization: Uses raw SpliceAI scores instead of delta scores to reduce the risk of underestimating severe splicing consequences.
• Complex Variant Annotation: Annotates complex variants, including complex deletions-insertions (delins), for comprehensive splice-impact assessment.
• SpliceAI-based Prediction: Implements the open-source SpliceAI deep learning algorithm for splice prediction.

Scientific Applications:

• Splicing Variant Classification (PVS1): Supports assessment of splicing variant classifications in relation to PVS1 criteria.
• Elucidation of Complex Splicing Defects: Aids interpretation of complex splicing defects reported in published and unpublished cases.
• Genetic Diagnostics: Contributes evidence for genetic diagnostics and interpretation of disease mechanisms relevant to personalized medicine.

Methodology:

Processes outputs from the SpliceAI deep learning model using raw SpliceAI scores to annotate variants, including complex deletions-insertions (delins).