White paper
How to accelerate exome diagnostics with standardized filtering strategies and API-enabled workflows using the varvis® software
How to accelerate exome diagnostics with standardized filtering strategies and API-enabled workflows using the varvis® software: the University of Leipzig Medical Center experience
Clinical genetics and molecular pathology labs alike are facing new challenges with the advent of Next Generation Sequencing (NGS). The results of such an analysis may be quite complex, involving thousands of variants that should be sorted and filtered with great care to arrive at results with clinical significance.
At the University of Leipzig Medical Center, the varvis® software is used for variant filtering, interpretation, annotation, and classification updates, and plays a central role in the implementation of an efficient strategy for sample analysis and lab reporting.
In this case study, we illustrate how the University of Leipzig Medical Center was able to significantly accelerate diagnosis for patients with rare diseases by using the varvis® software to set up a standardized and efficient variant filtering strategy.
At a glance
In this case study, you will learn:
- How genetic testing using NGS technology can significantly improve turnaround time when automating the interpretation and reporting protocols.
- How facilitating the varvis® API accelerates exome diagnostics.
- How the varvis® software allows labs to streamline variant assessment and reporting.
- How the University of Leipzig Medical Center has implemented a standardized filtering approach in their routine diagnostics using the varvis® software.
Authors
Dr. rer. nat. Robin-Tobias Jauss1
Dr. Roberta Trunzo, PhD2
1 Institute of Human Genetics, University of Leipzig Medical Center, Germany
2 Limbus Medical Technologies GmbH, Rostock, Germany