ESHG 2018

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!

New! Stop by for our In-Booth Talks (15 minutes)

Want to know the latest on difficult-to-sequence genes in ocular genetics? On Saturday June 16th at 4:15pm, our Chief Medical Officer Tero-Pekka Alastalo talks about RPGR (ORF15) and why it has such clinical relevance.

On Sunday, June 17th at 2:45pm, our Head of Data Science Jussi Paananen goes through what artificial intelligence really means for genetic diagnostics.

Join us on booth #426!

Satellite sessions:

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

See our program in pdf.

Our sessions: Optimizing 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.

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

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

1-1:45pm / 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:


Pertteli Salmenperä, Molecular Technologies Director at Blueprint Genetics, will be speaking at Integrated DNA Technologies’ (IDT) satellite session ‘Overcoming NGS and CRISPR detection challenges with advanced solutions’ on Sunday 17th at 19:15 – 20:45 hrs, Room: Amber 1.


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