Bioinformatics at ESHG


QIAGEN Digital Insights

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 and #552 and we encourage you to stop by for a chat, a demo, or to share your HGMD experiences on our poster-board. We’ll also 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 p.m. – 1:45 p.m. (lunch 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: Elodie Dubus
Presentation time: Sunday, May 22 at 10:15 a.m. – 11.15 a.m.
Location: Poster section 16 – Omics/Bioinformatics, poster board #P16.25A 

Leveraging network analytics to infer patient syndrome and identify causal mutations using patient DNA sequence and phenotype data
Presenter: Sohela Shah
Presentation time: Sunday, May 22 at 4:45 p.m. – 5:45 p.m.
Location: Poster section P14 – New diagnostic approach, technical aspects & quality control, poster board #P14.086B

A efficient and accurate end-to-end next-generation sequencing solution for identifying and interpreting disease causing variants in rare diseases
Presenter: Anika Joecker
Presentation time: Sunday, May 22 at 4:45 p.m. – 5:45 p.m.
Location: Poster section P15 – Personalized/Predictive Medicine and Pharmacogenomics, poster board #P15.06B

QIAGEN Corporate Satellite

QIAGEN and PreAnalytiX will host a joint Corporate Satellite where you can join us and hear how our customers are using our new technologies to advance molecular genetics research!

Title: Sample to Insight – The journey where biological samples are transformed into valuable insights
Speakers: Dr. Elena García-Arumí, Department of Clinical and Molecular Genetics and Rare Disease Unit, Hospital Vall d ́Hebron, Barcelona, Spain – Dr. Daniel Groelz, QIAGEN, Hilden, Germany
Date and time: Sunday May 22, 2016 at 11.15 a.m. – 12.45 p.m. in room 131

Dr. Elena García-Arumí, Hospital Vall d ́Hebron, will talk about molecular genetics approaches to mitochondrial OXPHOS system diseases using QIAGEN NGS strategies and Dr. Daniel Groelz, QIAGEN will present a new technology and workflow for integrated collection, stabilization, and purification of circulating cell-free DNA – the PAXgene® Blood ccfDNA System.


We’re looking forward to seeing you in Barcelona!

Follow us on Twitter at @QIAGENbiox and @QIAGENscience for updates during the event
Get more details about ESHG