# White paper: The Helix Pathogenicity Prediction Platform

arXiv: https://arxiv.org/abs/2104.01033 · HTML: https://mlsanity.com/paper/2104.01033/

## Key facts

- No citing papers in the map yet (data through 14 Oct 2026).
- Builds on 1 of its 17 references that are in the map.
- First posted on arXiv 2 Apr 2021.

## Builds on (most cited first, 1 of 1)

- [ProtTrans: Towards Cracking the Language of Life's Code Through Self-Supervised Deep Learning and High Performance Computing](https://mlsanity.com/paper/2007.06225/) (2020)

## Abstract (arXiv)

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.