White paper: The Helix Pathogenicity Prediction Platform
This provides a tool for researchers and clinicians in genetics to interpret genetic variants, but appears incremental as it builds on existing AI methods for pathogenicity prediction.
The paper introduces Helix, an AI platform for predicting pathogenicity of missense variants in human genomes, addressing the shift from data gathering to interpretation in genetic diagnostics and research, and claims best-in-class predictive performance with an accessible online platform.
In this white paper we introduce Helix, an AI based solution for missense pathogenicity prediction. With recent advances in the sequencing of human genomes, massive amounts of genetic data have become available. This has shifted the burden of labor for genetic diagnostics and research from the gathering of data to its interpretation. Helix presents a state of the art platform for the prediction of pathogenicity in human missense variants. In addition to offering best-in-class predictive performance, Helix offers a platform that allows researchers to analyze and interpret variants in depth that can be accessed at helixlabs.ai.