varvis® webinar

One assay to rule them all:

Why exome analysis is ready to replace NGS panels and conventional CNV detection

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Supreme target enrichment and validated NGS analysis software enable us to perform exome sequencing as a standard first step diagnostic. In this webinar, our speakers will tell you from their own perspective why exome analysis is ready to replace targeted NGS panels and conventional CNV detection as a single assay approach in clinical routine. Exome analysis is not only efficient and adequate for clinical diagnostics, it is in fact the new standard of care.

Learn more about

  Supreme target enrichment – 
why uniformity is key

Dr. Jochen Seggewiss, Twist Bioscience

Uniform coverage reduces the amount of sequencing required to reach a sufficient depth of coverage for all regions of interest. Maximized sequencing efficiency and exceptional coverage uniformity make the Twist Exome the ideal platform for exome-wide CNV analysis.
Furthermore, the flexible Twist workflow allows adding extra content to generate a "personalized" exome for each customer. Quality control of each produced panel by NGS guarantees unmatched quality and prevents probe dropouts.

  Results you can trust – validated CNV analysis from WES

Dr. Ben Liesfeld, Limbus Medical Technologies

varvis® has been designed from the beginning as the optimal software tool for whole exome analysis. The unique validated CNV analysis with single-exon resolution enables you to replace conventional CNV detection methods with confidence.

  Exome diagnostics - the new standard of care

Prof. Rami Abou Jamra, University of Leipzig Medical Center

It is our duty as clinicians to strive for the best diagnostic available. We will show you how and why exome diagnostics was established as the new standard of genetic diagnostics at the University of Leipzig Medical Center. We will present how this single assay approach enables us to quickly solve even complex cases and lead you step by step through the clinical-genetic evaluation of a few eye-opening examples.

OUR SPEAKERS

Supreme target enrichment – why uniformity is key

Dr. Jochen Seggewiss, Twist Bioscience

Dr. Jochen Seggewiss already became head of the genomics division of a core facility at the medical faculty of the Westfaelische Wilhelms-University of Muenster during his doctoral thesis at the Institute of Medical Microbiology. Besides offering microarray analyses, he launched the NGS service of the core facility on SOLiD4 up to SOLiD5500-wildfire. He joined then the Institute of Human Genetics where he was responsible for the development of the diagnostic NGS laboratory, which first just applied diagnostic NGS on a PGM and IonProton, but later also on a MiSeq and NextSeqs. His research focus was on hereditary breast and ovarian cancer. In May 2020, Jochen started at Twist as a NGS Sales Specialist.

Results you can trust – validated CNV analysis from WES

Dr. Ben Liesfeld, Limbus Medical Technologies

Dr. Ben Liesfeld is Co-Founder and Managing Director of Limbus Medical Technologies, a medical software company whose mission is to support and facilitate genetic diagnostics. A physicist by training, he co-invented computer guided laser surgery devices for ophthalmology. When accepting a position in a clinical laboratory in 2013 he learned about the huge potential and the challenges of diagnosing rare diseases using NGS. This led him to create an independent enterprise to leverage software and real-world evidence in order to solve the puzzles of genetic diseases.

Exome diagnostics - the new standard of care

Prof. Rami Abou Jamra, University of Leipzig Medical Center

Prof. Rami Abou Jamra studied medicine in Damascus and completed his habilitation and specialization to Human Genetics at Institute of Human Genetics in Bonn with a research focus on complex genetics of psychiatric disorders. From 2010 to 2015 he gathered additional scientific and clinical experience in Erlangen and Rostock. Since 2015 he is the Head of the Diagnostic Department at the Institute of Human Genetics, University of Leipzig Medical Center, where he has established exome-based genetic testing in clinical routine. His focus is the genetics of intellectual disability and the development of new applications for routine diagnostics.