ESHG 2020.2 and varvis® live in your living room - June 6-9, 2020
This year ESHG 2020.2 kicked off virtually and we were part of it! If you have missed our session you can still join us and watch our corporate satellite on demand whenever and wherever you want.
Are you interested in facilitating and accelerating whole exome analysis in your clinical routine? Here are two sessions you shouldn't miss!
On-demand corporate satellite
"Whole exome analysis in routine diagnostics"
varvis® has been designed from the beginning as the optimal software tool for whole exome analysis. Our speakers tell you from their own experience what the critical aspects are that make exome analysis successful and suitable for clinical routine. Using real case examples from high-throughput diagnostics, our speakers show how they use varvis® to streamline and accelerate WES analysis in their everyday clinical practice.
Don't waste a moment on manual QC
Dr. Ben Liesfeld,
Limbus Medical Technologies GmbH
The performance of an NGS assay is key for successful genetic diagnostics. Important quality metrics must be monitored for every single sample, but also across batches over time. An automated QC workflow allows to apply these principles at scale.
Increasing the diagnostic yield using the validated varvis® CNV analysis from WES
Halenur Yavuz-Kienle, PhD,
SYNLAB MVZ Humangenetik Mannheim
A validated CNV analysis with single-exon resolution enhances the diagnostic yield of WES-based genetic testing. Using real clinical examples, we will present how varvis® enables us to quickly solve even complex cases by providing a CNV view for trios and combining SNV and CNV data.
Adequate and efficient exome analysis - your chance and your duty
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 an overview of indications and 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 interesting and eye-opening cases.
Exome analysis workflows for clinicians
This workshop was part of the ESHG scientific programme and discussed concepts and tools enabling analysis of whole exome variant data sets from individuals, families and cohorts. The speakers demonstrated how to efficiently filter and prioritize variants for different biomedical questions using inheritance, quality metrics, disease gene panels and phenotypic information and furthermore discussed data quality control as well as workflow validation.
As part of the workshop, our CEO and co-founder Dr. Ben Liesfeld showed
How to validate whole exome diagnostics
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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.
"[Using varvis] a trained scientist can easily handle several hundred [WES] cases per year."
One turnkey solution for all clinical NGS applications
Identify rare and causative SNV and CNV in a single validated process and replace conventional PCR based Methods.
Whole exome sequencing
Do you need more than 15 minutes to interpret a whole exome? Accelerate WES interpretation by combining phenotype, family and inheritance Information.
Detect somatic variants with validated high sensitivity using state-of-the-art molecular barcoding technologies.
Important quality metrics are monitored automatically for every single NGS sample, but also across batches over time. Don't waste a moment on manual QC.
Push the button
Convenient filtering options such as inheritance filters and virtual panels allow you to filter from thousands of detected SNVs and CNVs. Within seconds.
Our clinically validated CNV analysis provides significant time and cost savings compared to ligation based CNV detection methods.
No matter how many samples or how many sequencing runs you have: our fully automated process delivers results overnight. Guaranteed.
No chance to meet in person? Let's schedule a virtual meeting and we will show you how varvis® helps you to streamline and accelerate WES analysis in your everyday clinical practice.
by Ben Liesfeld, Jan 7, 2020
The previous directive on in-vitro diagnostic medical devices (IVDD) did generally not apply to devices that were manufactured and used inside of health institutions.