Inherited genetic variants contribute to both rare and common diseases. For patients and their families, accurate interpretation can mean earlier diagnosis, clearer answers, and better care decisions. For clinicians and researchers, the challenge lies in making sense of large, complex datasets quickly and consistently. These findings can help guide care for individuals, as well as their relatives.
Genetic testing for inherited disease produces vast amounts of data. Within that data are variants that remain of uncertain significance, making interpretation complex. At the same time, clinicians and researchers work under pressure to deliver timely results, where delays can affect both patient care and family decision-making.
Saphetor helps clinicians and researchers interpret variants with confidence. By integrating trusted evidence sources and applying international guidelines, our platform helps bring clarity to complex data. Automated classification streamlines routine interpretations, while dynamic and algorithmic filters help highlight what is most relevant in each case. Flexible deployment options mean institutions can align genetic analysis with their clinical or research workflows, without compromising on security or performance.
