Bioinformatics at ESHG

The European Human Genetics Conference 2016 is taking place in Barcelona, Spain, on May 21-24. We’ll be there and we have prepared a number of scientific activities to take place. ESHG has become one of the premier events in the field of human genetics and will set the scene for discussions about the latest developments within human and medical genetics.

You can find us at booth #550 – please stop by for a chat and a presentation of our solutions – and we’ll be presenting posters and hosting a Satellite Meeting as well.

Satellite Meeting

Title: Using next-generation sequencing bioinformatics solutions to compare exomes in rare and inherited diseases and identify the cause of the disease
Speakers: Dr. Anika Joecker, PhD, Global Solution Manager, QIAGEN Bioinformatics – Céline S. Reinbold, MSc, PhD Student, Department of Biomedicine, University Hospital Basel, Switzerland – Dr. Andreas Rump, PhD, Head of Molecular genetics group, Institute of Clinical Genetics, Technical University of Dresden, Germany
Date and time: Saturday, May 21 at 12:15 PM – 1:45 PM (refreshments will be available)

Join us, together with Mrs. Reinbold and Dr. Rump, for noteworthy presentations on the use of next-generation sequencing in clinical applications. We’ll start the workshop with a brief introduction to our clinical genomics portfolio of solutions, presented by Dr. Joecker. Then Mrs. Reinbold will present her compelling data on a comprehensive comparison of three different exome sequencing pipelines. Dr. Rump will conclude the workshop with an exciting presentation on Exome and Mendeliome sequencing in rare genetic diseases where he will present the work from his recent publication in the Journal of Medical Genetics.


Identification of potential immune targets in controlling Endometrioid Endometrial Carcinoma metastatic progression
Presenter: Jean-Noel Billaud

Leveraging network analytics to infer patient syndrome and identify causal mutations using patient DNA sequence and phenotype data
Presenter: Sohela Shah

A efficient and accurate end-to-end next-generation sequencing solution for identifying and interpreting disease causing variants in rare diseases
Presenter: Anika Joecker

We’re looking forward to seeing you in Barcelona!
Get more details about ESHG