VarSome is a search engine, aggregator and impact analysis tool for human genetic variation. It renders and displays a detailed annotation of the queried variant, including multiple notations, genomic context, as well as information from 35+ public databases. It provides pathogenicity assessment consistent with the widely accepted ACMG guidelines. It allows a convenient programmable single-point interface for accessing all its data.
Saphetor is our ultimate variant discovery, annotation and interpretation tool for NGS data, brought to you by the creators of VarSome, The Human Genomic Variant Search Engine. Saphetor leverages the aggregated knowledge of VarSome and allows you easily incorporate its features into your information flow through the means of APIs.
Brands: VarSome, Saphetor