Navigate the NGS universe with confidence
VARVIS® - THE COMPLETE SOFTWARE SOLUTION FOR NGS PANELS, WES, WGS, CANCER DIAGNOSTICS AND CARRIER SCREENING
Corporate Satellite #CS07
Saturday, June 1 | 12.00 - 13.30 (CEST)
Room New York 1
Visit our
varvis® team at
booth #562
Join us at ESHG 2024
We can't wait to welcome you at ESHG to our home game in Berlin! We are looking forward to four days full of interesting and exciting talks, presentations and workshops. We invite you to join us and our three experts for our Corporate Satellite "All the variants, everywhere, all at once" on Saturday, June 1. If you don't have the chance to attend in person, make sure to save your virtual seat.
There are exciting news waiting for you! So don't miss the opportunity to stop by our booth #562 and visit the varvis® team to have a chat, discuss the latest advancements and get a deeper look into the varvis® software and its new features.
When?
Saturday, June 1
12.00-13.30 (CEST)
Where?
Room New York 1
varvis® Corporate Satellite
All the variants, everywhere, all at once:
bringing WGS to clinical practice
Whole genome sequencing has opened up a whole new universe of opportunities in human genetics, but efficiently dealing with the flood of newly generated data for clinical application is one of the biggest challenges we now face. It’s not a haystack, it’s an avalanche! Fast data processing, low storage costs, high availability of the data, automated shortlisting, convenient AI-powered variant prioritization, and, overall, an IVDR-compliant solution! - The list of requirements is long.
In this session, we will discuss these challenges and demonstrate how the varvis® software helps you to defeat this “final boss” of clinical genomics.
Our speakers & talks
Navigating the challenges of exome and genome analysis in rare diseases: a case series
Prof. Dr. Christel Depienne,
University Hospital Essen
Approximately 50% of patients with rare diseases of supposed genetic origin remain undiagnosed after exome analysis. In this presentation, we delve into the potential factors contributing to these diagnostic gaps and provide insights into uncovering elusive variants, featuring successful cases solved using the varvis software. We emphasize the importance of sequentially removing variant filters and shed light on overlooked causative variants due to quality discrepancies, evolving disease knowledge, or challenges in interpreting variants within noncoding genomic regions.
Should they stay or should they go? How to decide on variant prefiltering strategies for WGS
Dr. Roland Ewald,
Limbus Medical Technologies GmbH
The data volume of WGS samples pushes the boundaries of web-based diagnostics software. While users should always be able to see all the data they consider important, limiting the initial amount of data via 'prefiltering' can improve the user experience and thus facilitate diagnosis. This presentation discusses potential prefiltering strategies and their reliance on the availability of clinical WGS data. We assess their effectiveness in practice by evaluating them against variants reported in the allexes® reference data network.
I'm sorry Dave, I'm afraid AI can't do that: Limitations and opportunities of using artificial intelligence in clinical diagnostics.
Dr. Ben Liesfeld
Limbus Medical Technologies GmbH
As technology continues to revolutionize healthcare, Artificial Intelligence (AI) – particularly Machine Learning (ML) - is emerging more and more as an important and promising tool for improving clinical diagnostics. However, the accuracy and quality of ML models are critical for an accurate and reliable diagnosis. Therefore, the evaluation of model performance is of paramount importance, raising novel challenges, such as finding standardized benchmarks and assessing data quality.
This talk will provide a comprehensive introduction to AI and ML technologies, their fundamentals, definitions, and applications in the area of clinical diagnostics for various use cases. Practical examples of ML models for variant prioritization will be explored and used to examine the importance of explainability and performance evaluation of AI in genomics.
Save your seat
varvis® - Navigate the NGS universe with confidence
Cloud-based genetic diagnostics to accelerate laboratory workflows and enhance patient care
The varvis® genomics platform is a complete solution for clinical diagnostics, supporting NGS raw data processing, genomics data management, and variant interpretation. Automated CNV and SNV analysis are clinically validated and completely integrated into the NGS workflow. It is your one turnkey software solution for all NGS Panels, cancer diagnostics, WES and WGS.
Schedule your personal software demo
Click here to learn more about how varvis® can accelerate your laboratory workflows and increase your diagnostic yield:
