ESHG 2018

European Human Genetics Conference in conjunction with the European Meeting on Psychosocial Aspects of Genetics

ESHG 2018 will showcase the latest findings in the field of human genetics. Come and meet us at Booth #426 to learn more about how Blueprint Genetics is advancing genetic diagnostics!

During our corporate satellite sessions, we will serve a light lunch on Saturday, and coffee & snack on Monday.

Our sessions: Maximizing diagnostic yield & the future of AI in genetics

Get onboarded to the future of artificial intelligence in genetics and learn more about optimizing diagnostic yield in NGS-based genetic diagnostics. We will also discuss, what to know when selecting optimal testing for patients and what kind of challenges are currently seen in clinical interpretation of NGS data.

Corporate Satellite Sessions

Saturday, June 16th (Room: Brown 2) 

Due to the rapid growth of genetic knowledge and the increasing number of available testing options, choosing the optimal test for your patient may seem like a daunting task. This session equips clinicians with the necessary knowledge to confidently select the optimal test. Patient examples which demonstrate how to optimize genetic diagnostics to result in maximized diagnostic yield will be examined as well.

12:15-1:45pm / What should I know when selecting optimal testing for my patient?

Tero-Pekka Alastalo, MD, PhD, Chief Medical Officer, President

1:00-1:45pm / Optimizing diagnostic yield in NGS-based genetic diagnostics

Lucia Guidugli, PhD, Director of Molecular Diagnostics


Monday, June 18th (
Room: Amber 2) 

What does the future of AI in genetics look like? This session focuses on next generation interpretation technology and utilization of AI to interpret a patient’s genetic test results. Strategies which maximize quality and reproducibility of clinical interpretation in a high volume rare disease genetic diagnostic laboratory will be introduced as well.

3:00-3:45pm / Tackling the growing challenges of clinical interpretation of NGS data

Eveliina Salminen, MD, PhD, Clinical Interpretation Team Leader

3:45-4:30pm / Automated interpretation unlocks genomic medicine

Jussi Paananen, PhD, Director of Data Science

Our speakers:

Last modified: 05.11.2018