SOPHiA GENETICS: The AI Democratizing Data-Driven Medicine

Reliable variants identification based on NGS technology can be challenging in routine genetic diagnosis. Sufficient coverage of target region is a well-known prerequisite of accurate variant detection. However, there are other issues that are less obvious but important to ensure correct variant identification. For example, variants exposed to the end of reads, proper trimming of the primer sequences, special care of repetitive regions, etc. Understanding the limitation of the sequencing platform, the chemistry used for enrichment, the sequence context (gene panels) is the key to ensure an accurate analysis workflows. Here I introduce SOPHiA, a powerful technology based on collective Artificial Intelligence (AI) concept that aims to achieve goals of the Data-Driven Medicine. SOPHiA universal technology continuously learns from thousands of patients’ genomic profiles and experts’ knowledge to improve patients’ diagnostics and treatment options. Using this unique technology, all types of genomic variants are detected, annotated and pre-classified by SOPHiA, thus ensuring 99.99% specificity and sensitivity required for clinical application. Partnering with over 370 hospitals, located in 55 different countries, and diagnosing more than 150,000 patients world-wide has made SOPHiA GENETICS a pioneer in the Data-Driven Medicine.

کلیدواژه ها:

NGS ، AI ، Machine Learning ، Data-Driven Medicine ، Variant Analysis ، Diagnosis ، Bioinformatics