Advances in hereditary and rare diseases


QIAGEN Digital Insights

Advances in hereditary and rare diseases

We recently returned from beautiful Barcelona, where we attended the 49th annual meeting for the European Society of Human Genetics focusing on the latest advances being made in hereditary and rare diseases. It was a wonderful chance to meet our customers and our booth was bustling all day with meetings and demonstrations of our advanced testing and QCI solutions.

To start things off at the conference, we issued a press release announcing our implementation of the Broad Institute’s GATK best practices pipeline for Biomedical Genomics Workbench with its Biomedical Genomics Server Solutions. The press release also shared information about our highly accurate clinical performance at the recent CAGI 4 challenge for our Hereditary Disease Solution for exomes, genomes, and large gene panels.

At ESHG, we also hosted a satellite meeting and three poster sessions. We met an overwhelming interest in our presentations and the topic about “Using NGS solutions to compare exomes in rare and inherited diseases and identifying the cause of the disease” filled the room – all seats and standing spots were taken. As a respond to the huge interest, we had the presentation recorded. You can watch both the video and the posters below.

We were impressed by the caliber of research and innovation being undertaken by our colleagues and customers at ESHG. In 2017, the organization will hold its 50th anniversary event in Copenhagen – we hope to see you there!

Watch the presentation from our satellite meeting

A great presentation on the use of next-generation sequencing in clinical applications was given by:

  • 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
  • Dr. Anika Joecker, PhD, Director, Global Product Management, Clinical Program, QIAGEN Bioinformatics

View the posters

Identification of potential immune targets in controlling Endometrioid Endometrial Carcinoma metastatic progression
Presented by Elodie Dubus

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

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

Liquid biopsy solutions

Our liquid biopsy solutions empower you to sensitively, specifically and rapidly analyze circulating nucleic acids, giving you the first step towards uncovering valuable biomarkers in your samples. Check out our solutions on or visit the Biomarker Insights blog for scientific stories!