ESHG 2019

Blueprint Genetics will be attending The annual European Human Genetics Conference in Gothenburg, Sweden. ESHG 2019 will gather speakers around the globe and showcase the latest findings in the field of human genetics. Browse the ESHG programme to view all sessions, symposia and workshops here and join the discussion #eshg2019.

Come meet our team at Booth #220 to learn more about how Blueprint Genetics is advancing genetic diagnostics.

Our scheduled talks:

Saturday, June 15th, Room A-3, 12:15-13:45 PM

Improving diagnostic yield with advances in difficult-to-sequence regions and high resolution CNV detection.

    • 12:15-13:00
      Emerging opportunities in resolving difficult-to-sequence regions – PKD1 as a case example
      Johanna Sistonen, PhD, Head of Clinical R&D
    • 13:00-13:45
      High resolution CNV detection – a powerful diagnostic tool
      Eveliina Salminen, MD, PhD, Associate Laboratory Director

In-booth talks:

Sunday, June 16, 14:40-15:00 PM

  • WHAT IF IT’S A VUS? Why variants are classified as a VUS and what can be done to advance reclassification
    Eija Seppälä, PhD, Senior Geneticist

Monday, June 17, 14:40-15:00 PM

  • MACHINE LEARNING – What it really takes to bring it into action in clinical genetics?
    Jussi Paananen, PhD, Chief Technology Officer


Our posters:

Sunday, June 16, 10:15-11:15 AM, Group A
  • Accurately resolving copy number variation in highly homologous SMN1 and SMN2 genes using next-generation sequencing and rhPCR
    Presenting: Heidi Junnila, #P10.34A
  • Copy number variants (CNVs) identified by comprehensive genetic testing of inherited retinal dystrophies
    Presenting: Lotta Koskinen, #P02.59A
  • Diagnostic Yield of Genetic Testing in an Unselected Cohort of 1,376 HCM Patient
    Presenting: Johanna Tommiska, #P05.33A
Sunday, June 16, 16:45-17:45 AM, Group B
  • Diagnostic yield of whole exome sequencing‐based genetic testing for patients with inherited eye diseases (Among the best scored papers)
    Presenting: Emma Mårtensson, #P02.32B
  • Prevalence and characteristics of RPGR ORF15 variants in patients with inherited retinal dystrophies
    Presenting: Johanna Sistonen, P02.60B
  • Clinical Utility of Next Generation Sequencing (NGS) Panel Testing in Patients with a Clinical Suspicion of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
    Presenting: Eija Seppälä, #P05.18B
Monday, June 17, 10:15-11:15 AM, Group C
  • Prevalence and genetic characteristics of RPE65-associated retinal disease
    Presenting: Johanna Tommiska, #P02.61C
  • Improved mapping quality and coverage in highly homologous PKD1 gene enable high diagnostic yield in ADPKD
    Presenting: Milja Kaare, P03.47C
Best Poster Session

Geneticist Emma Mårtensson’s (PhD) poster is among the best scored papers of ESHG 2019. Read more about the best poster session at ESHG 2019

Monday, June 17, 13:00-14:30 PM, C23, Best poster 2
  • Diagnostic yield of whole exome sequencing‐based genetic testing for patients with inherited eye diseases

> Read more: 8 things to consider when choosing genetic testing for your patient


We hope to see you there!

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