Industry Forum Human Genetics

16–18 March 2022 | Würzburg

Organisational remarks

congress website

Technical workshops - 16 March 2022

Möglichkeiten der genetischen Testung am Beispiel der seltenen Erkrankung AADC-Mangel 
Prof. Dr. med Carsten Bergmann (Medizinische Genetik Mainz)

Highly accurate long-read sequencing lets you see what you’ve been missing

Introduction to HiFi sequencing and its applications
Natalie Walczak (PacBio)

The additive value of long read (amplicon) sequencing
Dr Kornelia Neveling (Radboud University Medical Centre (Radboudumc), Nijmegen)

Long-read whole genome sequencing in unexplained rare diseases
Dr Alexander Hoischen (Radboud University Medical Centre (Radboudumc), Nijmegen)

Genetische Beratung – eigenständiges Softwaremodul und Teil der
DORNER Genetik Softwarelösung

Alexander Eisfeld

Die genetische Beratung gehört wie die Analytik und Befundung zu den wesentlichen Aufgaben in der Humangenetik. Das DORNER Software Modul kann unabhängig der eingesetzten Laborsoftware standortübergreifend verwendet werden und ist gleichzeitig Teil der DORNER Genetik Lösung. Sehen Sie in einer Life-Demo wie einfach es zu bedienen ist und wie sehr es Ihre Aufgabe vereinfacht.

Unique patient-derived Reference Materials for Non-invasive Prenatal Testing
Dr. Krystyna Nahlik

A beginner’s guide to RNA-seq
Rita Monteiro

Technical workshops - 17 March 2022

Advances in WGS: latest innovations in rare diseases

Beyond the Exome: Genome sequencing as a one-test-for-all strategy in the German healthcare system
Prof. Dr. med. Malte Spielmann, Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein

WGS in routine diagnostics: pitfalls and benefits
Dr. rer. nat. Gunnar Schmidt, Institut für Humangenetik, Medizinische Hochschule Hannover

Introducing Biomark X
The new benchmark for flexible and high-throughput qPCR

Matthias Koenn (Fluidigm Germany GmbH)

Clinical diagnostics beyond the exome: Making the most of your NGS data

The varvis® software is the leading software solution for genetic testing laboratories in Germany. When using the varvis® software, laboratories are compliant with international guidelines and well prepared for accreditation of Whole Exome Sequencing assays according to ISO 15189 and for compliance with IVDR. In this workshop, we will present how the varvis® software enables automated QC and identity checks, fully evaluates all available information, and provides a built-in scalable data-sharing network in compliance with relevant regulations.

Automated quality control: A must-have for accreditation and to accelerate the NGS workflow
Veronika Scholz (Medizinisch Genetisches Zentrum München)

Regulations and guidelines impose many requirements on the workflows in genetic testing laboratories. High-throughput laboratories rely on automating processes and reducing hands-on time. Here we present how MGZ München utilizes the varvis® Validation Service and the API to automate crucial processes in quality control including identity checks and the detection of maternal contamination based on NGS data alone.

Cabinet of curiosities: Detecting and interpreting extraordinary variants with varvis®
Dr. Lena Hausdorf (Limbus Medical Technologies GmbH)

Several thousand SNV and CNV analyses are performed every month using the varvis® software in a highly standardized way. 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.

The future is now: A national genomic data network for Germany and beyond
Dr. Ben Liesfeld (Limbus Medical Technologies GmbH)

Seven years ago, the varvis® software introduced the reference data network allexes®. It enables genetic testing laboratories to exchange valuable information about millions of genomic variants and related phenotypes. Since then, allexes® has demonstrated that GDPR-compliant large-scale data sharing between private and public institutions alike is not only technically feasible, but also enhances the data analysis of every individual patient. We propose to use its blueprint for the national healthcare model project for comprehensive diagnostics using genome sequencing.

Twist Bioscience - Improving Exome Sequencing with Best-In-Class Tools

Twist Exome 2.0 - The New Standard in Exome Sequencing
Dr. Jochen Seggewiss (Twist Bioscience)

Twist Exome 2.0 is designed to detect rare and inherited diseases, as well as germline cancers. This panel’s high uniformity and low off-target rate deliver best-in-class sequencing efficiency, enabling quality data to be collected with less sequencing. With superior coverage of major genetic databases (RefSeq, CCDS, GenCode, Clinvar, ACMG73 and more) and the addition of clinically relevant non-coding pathogenic and likely pathogenic variants, Twist Exome 2.0 provides the value of multiple clinical panels all wrapped into one, easily customizable package.

Twist Bioscience will present data from a customer´s lab and the superior data generated using the new Exome 2.0 and clinical cases which wouldn´t have been solved using other exomes.

NGS Analysis at the Medical University of Vienna: Past – Present – Future
Dr. Reinhard Lehner (Institut für Medizinische Genetik, Medizinische Universität Wien)

The “Center for Pathobiochemistry and Genetics” started with NGS analysis around 2013 with both “Whole Exome Sequencing” and indication depended gene panels. While in the beginning the number of cases to analyse per month was limited, this changed dramatically in the year 2017. Since then we analysed approximately 7500 cases (WES, Clinical, Panels). This talk should invite you to a short overview from the beginning of NGS analysis in our institute until today. It will also cover the challenges we have been faced to (technical and bioinformatical issues) and how we solved most of the problems. In addition we also want to present some strategies or programs/pipelines we are already using to achieve better data and results or that might be helpful in the future.

Technical workshops - 18 March 2022

New solutions at Agilent for human geneticists
Andreas Ruehlmann (Agilent Technologies), Fabian Lappann (MVZ Eberhard & Partner),
Dr. Ben Liesfeld (Limbus Medical Technologies GmbH)

Accelerate your NGS to the proteomics level
Olink’s PEA technology complements MultiOMICS in clinical research and drug development
Dr. Karsten Strauß, Dr. Per Hoffmann, Dr. Waldemar Seel

Chromosome separation and assignment with the help of artificial intelligence.
The new version 6.3 of Ikaros with DNN
Dr. Christian Schunck, Dr. Jochen Bogin

On-screen karyotyping is an established method for chromosome diagnostics. Although modern software, such as MetaSystems' Ikaros, provides many tools to facilitate the processing and analysis of metaphases, tedious manual steps, such as the separation of large chromosome clusters or the assignment and alignment of chromosomes, have been necessary until now.

Recent improvements in the field of artificial intelligence, and in particular in the application of so-called Deep Neural Networks (DNNs), now enable a major leap towards full automation of the entire assisted karyotyping workflow in the latest version of Ikaros.

Ikaros 6.3 includes DNN-based processing of metaphases. Here, both the separation of chromosomes and their assignment are performed automatically with the help of artificial intelligence. As a result, the system generates a finished karyogram proposal from an unprocessed metaphase at the push of a button. Cytogeneticists then only must review the proposal and generate their diagnosis.

At our seminar at the GfH meeting 2022 in Würzburg we will demonstrate this patented method (U.S. Patent No. 10,991,098: Methods for Automated Chromosome Analysis). We will show you how the software handles metaphases from different tissue types (e.g., lymphocytes or bone marrow) and different banding stains. In addition, we will present statistics from regular operation, which underline the quality of the new procedure and also its usability in routine. Our figures and initial reports from users show that a time saving of up to 50% per case can be achieved.

If it should be possible against the background of the current development of the Covid-19 pandemic, we would be pleased to offer you to bring your own preparations and evaluate them with the latest version of Ikaros. For this purpose, we have created a form with which you can register for the workshop. Please use either the attached QR code or the following link to open the form: We would be happy if you take this opportunity at the GfH meeting 2022, and we can welcome you at our workshop.

Use of White-box ML models for variant prioritization: How can AION help?
Dr. Edgard Verdura (Nostos Genomics)

Nostos Genomics’ phenotype-based interpretation platform ‘AION’ significantly reduces the complexity of variant interpretation. Using patent-pending machine learning algorithms for variant classification and prioritization, ‘AION’ can process whole exome tests in less than 2 minutes while increasing the number of cases solved. Our state-of-the-art artificial intelligence, combined with a continuously updated knowledge base, outperforms rule-based ACMG classification by more than 50% and provides all the information needed to independently verify results.

Our Clinical Customer Success Manager Dr. Edgard Verdura will present an overview of how machine learning models are assisting NGS variant data analysis, and how our pipeline AION benefits from “white box” machine-learning algorithms to interpret variants to help shorten the diagnostic odyssey in rare disease patients.

Next-generation cytogenomics: the benefits of optical genome mapping for constitutional diseases and hematological malignanices

Next-Generation Cytogenomics: Optical Genome Mapping for the detection of Structural Variation in complex human genomes
Dr S. Ziemann, Bionano Genomics

Optical genome mapping in pediatric AML – is there potential to replace classical cytogenetics?
Julia Suttorp (University Hospital Essen)

Implementation of Optical Genome Mapping in a cytogenetic clinical laboratory
Dr. rer. nat. Julia Flunkert (Medicover Berlin)

Panel discussion
Dr. Alexander Hoischen (Radboud University Medical Center), Dr. Kornelia Neveling (Radboud University Medical Center)
Julia Suttorp (University Hospital Essen), Dr. rer. nat. Julia Flunkert (Medicover Berlin)