Navigate the NGS universe with confidence
THE COMPLETE SOFTWARE SOLUTION FOR NGS PANELS, CANCER DIAGNOSTICS, WES AND WGS
Saturday, June 11 | 12.15 - 13.45
Room -2.32/-2.33 | Level -2
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Join us for ESHG 2022
We are looking forward to four days full of interesting and exciting talks, presentations and workshops at ESHG 2022 in Vienna, June 11-14. We invite you to join us and our four experts for our corporate satellite "Exome diagnostics and beyond" on Saturday, June 11, and to visit the varvis® team at our booth #X5-258 to have a chat, discuss the latest advancements and get a deeper look into the varvis® software and its new features. If you don't have the chance to attend in person, make sure to save your virtual seat to our corporate satellite.
Saturday, June 11
varvis® corporate satellite
"Exome diagnostics and beyond: Making the most of your clinical NGS data"
Large NGS-based panels or even Whole Exome Sequencing have become the first-line diagnostics in most European countries. This has led to the generation of huge amounts of data that need to be processed, assessed, and interpreted with confidence. With the varvis® software alone, several thousand patient samples are analyzed every month in a highly standardized way. With the right toolset, the analysis of an exome often has become a matter of minutes. Still, there are the simple and the more complicated cases.
In this session, our speakers will present how the varvis® software enables you to quickly solve even complex cases by fully evaluating all available information.
Our speakers & talks
How software can help solve whole exomes
Dr. Halenur Yavuz-Kienle,
SYNLAB MVZ Humangenetik Mannheim GmbH
A validated and automated software solution enhances the diagnostic yield of WES-based genetic testing. Using real clinical examples, we will present how the genomics platform varvis® enables us to quickly solve even complex cases e. g. by providing convenient inheritance filters and phenotype-based variant prioritization.
Challenging hidden mutations
Prof. Rami Abou Jamra,
University of Leipzig Medical Center
Efficient software and decreasing costs enable us to perform exome sequencing as a standard first step diagnostic. We present some unexpected results gathered from thousands of exomes performed in an academic diagnostic laboratory. We then lead you step by step through the clinical-genetic evaluation of a few tricky and eye-opening cases.
Mind the gaps: the impact of transcript alignment on variant interpretation
Dr. Roland Ewald,
Limbus Medical Technologies GmbH
Even on the current reference genome, hg38, there are dozens of clinically relevant genes with protein-coding transcripts that cannot be fully aligned to the reference genome (e.g., PTEN, PAX6, COL18A1, and SHANK3). The resulting 'mapping gaps' between transcript and genome reference sequence can cause confusion and thus hamper diagnostics.
In this talk, we explain the underlying issues and offer some practical advice for identifying and dealing with these gaps. We also evaluate the global impact of these issues on variant interpretation, by analyzing clinical data from the allexes® reference data network.
Cabinet of curiosities: Detecting and interpreting extraordinary variants with varvis®
Dr. Lena Hausdorf,
Limbus Medical Technologies GmbH
Together with our customers, our support team endeavors to understand puzzling results or apparent contradictions with other methods. We will illustrate and explain a selection of unexpected and illuminating discoveries that highlight the great value of the comprehensive analysis of NGS data.
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.