At Saphetor, we implement AI solutions to reduce the complexity of variant interpretation and support human review. Our AI applications are not a standalone product.
Rather, they are additional features within the VarSome platform that turn large, fragmented datasets into something that professionals can use efficiently and confidently.
NGS analyses can return thousands of candidate variants. VarSome Picks, our AI-powered algorithmic filter, can help you prioritise these variants for further review.
VarSome Picks combines phenotype, gene, and variant information to rank variants according to their likelihood of explaining a given phenotype. Users are presented with the most relevant candidate variants, reducing manual downstream processing.
The relevant evidence to support your variant interpretation may be scattered across many data sources. VarSome Lighthouse, an AI assistant within the VarSome Premium platform, generates detailed summaries to help you make sense of this vast amount of information.
VarSome Lighthouse uses a highly constrained LLM to synthesize the information available on the variant card into a clear, report-ready narrative, making it easier and faster to review and communicate complex data. Importantly, VarSome Lighthouse does not independently search for evidence or introduce external sources, meaning you can be confident that the output is accurate, hallucination-free, and based only on the trusted information that is already used to power the VarSome platform.
Genomic knowledge is consistently and rapidly expanding, as new publications and discoveries are made every day.
Natural language processing can help to connect and structure relationships between publications, genes, variants, diseases, and phenotypes within the VarSome knowledge ecosystem, turning unstructured and fragmented data into useful evidence that can be interrogated during variant interpretation.
