29th Annual Meeting of the German Society for Human Genetics (GfH)

14 – 16 March 2018 • Münster/Germany

29th Annual Meeting of the German Society for Human Genetics (GfH)

14 – 16 March 2018 • Münster/Germany

Congress details



Technical workshop

BRCA-Mutationsanalyse bei hereditären Tumorerkrankungen

Chair: Prof. Olaf Rieß, Tübingen
Begrüßung (5min)
Prof. Olaf Rieß, Tübingen

PARP-Inhibitoren bei BRCA mutierten Tumoren – Wohin geht die Reise?  (20 min + 5 min Diskussion)
Prof. Frederik Marmé, Heidelberg

BRCA-Keimbahndiagnostik – Zukünftige Herausforderungen für die Humangenetik (25 min + 5 min Diskussion)
Dr. Hoa Huu Phuc Nguyen, Tübingen

Die Veranstaltung richtet sich ausschließlich an Ärztinnen und Ärzte.
Eine Fortbildung von AstraZeneca.

State-of-the-art in NGS diagnostics – today and future
Speaker: Massimiliano Gentile
Laboratory Director and Chief Medical Officer, Blueprint Genetics

“fetalis® - NIPT in der Routine”
Dr. Anna Teubert, amedes genetics

“NIPT mit Illumina – ein Ausblick”
Dr. Torsten Pfaff, Illumina

From small panels to whole exome sequencing: JSI medical systems' all in one solution for variant calling and interpretation

From small panels to whole exome sequencing: JSI medical systems' all in one solution for variant calling and interpretation
Today's product development and technologies have opened the door for the next generation sequencing to become a powerful tool for routine genetic diagnostic and research.
Especially with regard to an increasing availability of whole exome data, generating trustworthy results and their correct interpretation in a short time represent the new challenges that physicians and researchers are facing daily.
Laboratories worldwide are already using our SEQUENCE Pilot software for the analysis of their Sanger sequencing and NGS data, appreciating especially its accuracy, efficiency and traceability.
This workshop will introduce you to our all in one workflow solution, starting with the next generation sequencing data analysis in SEQUENCE Pilot's SeqNext, followed by the variant interpretation in our new application for Shared Experience And Knowledge - varSEAK.
SeqNext offers a flexible definition of your target regions, combined with highly efficient standards for mapping, alignment and quality. This coupled with highest sensitivity and specificity in the determination of SNPs, deletions and insertions (of any size), as well as additional functionalities such as CNV analysis, fusion gene detection and tag processing (smMIPs) guarantees a safe and fast analysis of your NGS data. Finally, flexible analysis settings combined with quality and coverage warnings ensure that any laboratory’s requirements are completely fulfilled.
With one click, varSEAK - your local variant interpretation platform – gets all detected variants transferred automatically from SeqNext. For their interpretation and the final report you can benefit from integrated public databases and the knowledge of the varSEAK community, a global, manually curated database. Creating and switching between efficient filter strategies allows you to focus on the variants of interest. Finally tools such as a guided ACMG classification or splice site predictions guarantee a reliable interpretation and classification process of your variants.

Autoren: Dr. Cristina Wolf & Dr. Peter Kirchmeier

New Tools for Clinical Applications
Introduction, Dr. Per Hoffmann, Life & Brain GmbH
The Global Screening Array 2.0: New updated content for enhanced clinical and PGX use,
Dr. Cicely Washington, Illumina GmbH
PacBio SMRT Sequencing: Applications and Updates
Dr. Ralph Vogelsang, Pacific Biosciences
How to integrate PEDIA scoring in your exome analysis workflow
Mrs. Jean-Tori Pantel, GeneTalk GmbH

Quick and comprehensive differentiation of NGS-based analyses of hereditary diseases (selected case studies)
Dr. Josef Hermanns, Vice President of Project Office

FISH-Diagnostics: Tips`n`Tricks
Join us at our FISH workshop on Thursday 15 March (12pm).
Packed with useful technical information and advice for your lab you’ll be able to take back to your lab following this workshop.
Our Field Application Scientist, will be on hand to answer any questions. We’re also offering a FREE technical visit to those who attend*

Igor Gerasimovski ( Business Development Manager – Cytocell)
Gothami Fonseka (Field Application Scientist – Cytocell)

*Subject to availability, if booked within 6 months of the workshop

Extraction to Analysis – Increase efficiency in your NGS workflow with automation

Speaker: Michael Hanson & Marius Bäumler

Using real-world examples we will demonstrate how easy it is to automate the different steps in the NGS workflow.  Whether it be extracting nucleic acids using chemagen technology and the new chemagic Prime, automating NGS library preparation with our improved G3 range of dedicated liquid handling solutions, to final quality control with LabChip microfluidics, let PerkinElmer show you how to save time and effort by using automated solutions in every part of your NGS sample preparation and let us introduce you to our BIOO Scientific NEXTflex NGS Kits and Barcodes as well as amplicon panels.

Optimierung des NGS Workflows mit GenLAB8 und VARVIS

Speaker: Oliver Krause & Ben Liesfeld

Lassen Sie sich in diesem Workshop davon überzeugen, wie einfach und sicher das Zusammenspiel zwischen Bioinformatik-Software und Laborinformationssystem sein kann. Informationen wie Patienten-Daten, QC Reports und genetische Varianten werden über integrierte Schnittstellen automatisiert zwischen GenLAB8 und der VARVIS Plattform ausgetauscht. Dadurch können Sie nicht nur Arbeitsabläufe beschleunigen, weil zusätzliche manuelle Dateneingaben überflüssig werden. Sie können damit auch das Risiko von Fehleingaben minimieren und eine Konsistenz der Daten über die Systeme hinweg sicherstellen.