Illumina has just formed a new partnership with Emedgene. Emedgene is an AI company which works to automatically interpret and collect data for rare genetic diseases. This data will be put into Illumina’s TruSight Software Suite. This data will be used for both rare disease research and clinical applications.
About the Collaboration
This collaboration will support all rare diseases. They will investigate all rare disease variants, with the hope to provide quicker diagnosis for all conditions.
The collaboration was created with hope that the AI will be able to better scan medical literature and data to facilitate faster discoveries in the rare disease realm. Though it’s just a starting point, it’s a good one.
They will be continuing to look for additional collaborations and technological gaps. But currently, they are very impressed and excited about the performance that Emedgene is able to offer.
The TruSight Software Suite
This software essentially translates raw data into results which can assist rare disease cases. It is also compatible with other sequencing systems already used for rare disease research.
The suite was specifically designed so that it will be able to house more research tools as more are developed or more partnerships are made. Currently, Illumina has created two different tools. One is called SpliceAI. This tool works to collect data on which gene variants are present in cryptic splice cite regions. The second tool is called PrimateAI, and it was created to predict benign gene variants that are conserved in many primates.
The suite is also is integrated with DRAGEN Bio-IT, another one of Illumina’s platforms. This integration helps to analyze smaller variants and mitochondrial variants among other things.
Emedgene uses Natural Language Processing to automatically read new literature and data and automatically input it into the platform. It also prioritizes data based on credibility. This credibility is predetermined by scientists at the company.
The consolidation of all of this data into one easily organized, prioritized, set, will help to lead to better research and investigation into rare diseases.
You can read more about this new partnership and software here.
