The European Human Genetics Conference 2023

Blueprint Genetics will be attending the European Human Genetics Conference

This meeting takes place on June 10-13, 2023 in Glasgow, Scotland, UK.  The ESHG offers an opportunity for the medical genetics community to come together and learn about both research and clinical updates that inform their daily practice. Come and join us to find out what’s shaping the future of genetics and genomics! Visit our team at booth #650 to hear about the latest developments at Blueprint Genetics.

Our program:

WES and WGS: Today and Tomorrow

Satellite Session: Saturday, June 10 – 12:00-13:30,  Carron level 1

Part I: Optimized Whole Exome Sequencing: The Blueprint Experience

WES with an out-of-the box assay may not be optimized to detect noncoding variants, variants in difficult-to-sequence genes and small CNVs. How much does this impact diagnostic yield? Dr. Kirsty Wells will present the Blueprint experience of utilizing an optimized WES assay that now includes almost 2000 clinically-relevant noncoding variants, small CNV detection, and enhanced coverage of challenging regions. Through case examples, Dr. Wells will show that these variant types underlie a significant proportion of WES diagnoses. Therefore, optimization for detection of these variants may maximise WES diagnostic yield.

Presented by: Kirsty Wells, PhD, Senior Geneticist

Part II: Transitioning into Whole Genome Sequencing as clinical mainstream

Genetic information is fundamental in identifying causes of inherited disorders and characterizing the mutations that drive pathogenicity. Whole Genome Sequencing is a powerful tool for genetic testing as it provides the highest diagnostic yield. As the cost of sequencing the entire human genome continues to drop, we are reaching a tipping point when sequencing genomes as part of routine diagnostics becomes feasible. Dr. Samuel Myllykangas will present Blueprint Genetics’ perspective on WGS and demonstrate its application for efficient diagnostics of inherited disorders.

Presented by: Samuel Myllykangas, PhD, General Manager

Poster Presentations 

  • The Occurrence of Variants in Difficult-to-Sequence Genes, Noncoding Variants and Copy Number Variants in Whole-Exome Sequencing: The Blueprint Experience (P17.042.B). Poster presentation time and location: June, 11 at 15.45 – 16:45, Poster Hall 4. Presented by: Mari-Liis Lukke, PhD.
  • Next-generation sequencing-based panel testing identifies heterogeneous genetic etiologies of short stature (P05.026.B). Poster presentation time and location: June, 11 at 15.45 – 16:45, Poster Hall 4. Presented by: Lotta Koskinen, PhD 
  • Characterization of copy number variants identified by genetic testing of epilepsy (P10.033.A). Poster presentation time and location: June, 11 at 13.00 – 14:00, Poster Hall 4. Presented by: Eija Seppälä, PhD

Interested to learn more?

Our team is looking forward to meeting you!

We will be available to discuss Blueprint Genetics’ latest updates at this event – be sure to stop by our booth: #650  during the conference!


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