SOPHiA GENETICS provides faster, more accurate diagnosis solutions for your patients thanks to its unique proprietary technology and advanced algorithms powered by machine learning and human expertise leveraging the World's Largest Clinical Genomics Community.


Sophia Genetics brings you the following benefits

Accelerated clinical use of NGS for routine diagnostic testing

SOPHiA GENETICS is the Global Leader in Data Driven Medicine and NGS-based routine diagnostics solutions. With over 410 hospitals using our platform, we understand your priorities as you move to routine clinical genomics testing. Our simple clinical NGS Validation Program walks you through some straightforward steps to start routine diagnostics in 21 days.

Christine Bell, Healthcare Scientist and Principal Consultant, Aberdeen Medical Genetics: “Working with SOPHiA GENETICS has allowed us to investigate and validate this gene panel more quickly and with greater confidence than we could have done on our own, speeding up the process of introducing the new NGS test to our routine service.”


Top analytical performance

Achieving top analytical performance is crucial for every diagnostic test implemented in routine and is the basis for robust and accurate patient diagnosis. SOPHiA GENETICS ensures top analytical performance with these two concepts: 

  1. State-of the art algorithms 
    Our highly trained team of bioinformatics experts in NGS constantly seeks out new algorithmic approaches such as agglomerative clustering and Iterative Bayes Decision making. Constantly striving for innovation, today we understand the depth, particularities and pitfalls of NGS analytics. 

  2. The unique Clinical Genomics Community 
    The SOPHiA GENETICS Clinical Genomics Community is the largest clinical reference data set in the world. The number of characterized patient samples, and consequently the number of distinct variants for a given diagnostic test are maximised.


Shortened turn-around time

Time is always an issue for routine diagnostics labs, and pressure to deliver the patient diagnosis quickly is high, but accuracy cannot be sacrificed. In order to shorten the turn-around time, SOPHiA GENETICS has developed the SOPHiA DDM® platform for clinical NGS data analysis that helps you manage your data and interpret your variants in a simple and user-friendly way. Through SOPHiA DDM® you can get access to SOPHiA GENETICS' private and ISO-certified data centers to process your NGS data faster than on your local Desktop computer. SOPHiA DDM® also offers you a user-friendly and intuitive interface to interpret your variants and generate the patient reports.

Cost saving

Traditionally, the cost of implementing a new NGS-based test in routine diagnostics was high. Firstly, testing different suboptimal solutions for a given genetic is costly. Secondly, the validation itself represents a huge cost factor. Finally, documentation of validation results consumes a large personnel cost.
The focus of SOPHiA GENETICS on clinical NGS-based testing for routine diagnostics significantly decreases the costs incurred for a lab. 

  • We are offering support in the evaluation and choice of best solutions for a given genetic test.
  • Through our Validation Program we minimize and structure the amount of samples that have to be used in the validation.
  • We largely ease the documentation of the test validation.