Software

Analytical platform for clinical genomics that enables the detection, annotation, and interpretation of genomic variants using artificial intelligence to support patient diagnosis and treatment. Detailed Description SOPHiA DDM™ Platform is an advanced solution for precision medicine workflows, with a renewed interface, web access, and new functionalities to accelerate genomic data analysis. It offers end‑to‑end workflows…

VarSome Clinical is a CE‑IVDR platform for clinical interpretation of NGS data that turns genomic data into actionable information. The software performs calling, annotation, classification and prioritisation of germline and somatic variants, linking them with curated evidence to support faster and more reliable diagnostic decisions. Detailed Description Principle of operation VarSome Clinical is a comprehensive…

Emedgene™ software is designed to optimise variant interpretation in rare diseases and other germline applications. It combines explainable artificial intelligence, automation and configurable workflows to reduce the variant curation burden and accelerate tertiary analysis. Detailed description Key features It is a comprehensive solution developed to streamline genetic interpretation workflows and reduce the manual effort associated…

Franklin by QIAGEN is a cloud-based bioinformatics platform designed for the management, analysis, and interpretation of human genomic data. The solution centralizes case evaluation, quality control, variant prioritization, and classification into a structured workflow, facilitating the review and interpretation of complex sequencing data for specialized professionals. Detailed Description This cloud-based bioinformatics software has been developed…

SeqOne is an in vitro diagnostic platform for genetic analysis, designed to help healthcare professionals interpret next-generation sequencing (NGS) and array CGH data. The platform provides qualitative and actionable results, functioning as a clinical decision support system. Key features It is an in vitro diagnostic medical device, Class C with CE-IVD marking and certified according…