The European Human Genetics Conference 2026
Blueprint Genetics will be attending the European Human Genetics Conference
This meeting takes place on June 13-16, 2026 in Gothenburg, Sweden. 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 #536 to hear about the latest developments at Blueprint Genetics.
Our program
Satellite Session: Saturday, June 13, 12:15 – 13:30
Integrating WGS, WES, and panels in clinical practice
Technical excellence and advanced interpretation: How to deliver high-quality whole genome sequencing
Whole genome sequencing (WGS) is a powerful diagnostic tool that can offer advantages over whole exome sequencing, including improved detection of structural variants, repeat expansions, and noncoding variation. However, the clinical value of WGS is highly dependent on the quality, performance, and interpretation strategy of the test. In this presentation, Dr Kirsty Wells will discuss the key elements of a high-quality WGS assay, including rigorous validation, robust analytical performance across a range of variant types, reliable variant calling in technically challenging regions, and effective filtering strategies. Equally critical is the interpretation approach to WGS, which relies on advanced software platforms, AI-driven variant prioritization, accurate, up-to-date annotation, and specialist expertise in variant interpretation. Dr Wells will show that the combination of robust technical performance with high-quality interpretation is key to fully realizing the diagnostic potential of WGS.
Presented by: Kirsty Wells, PhD, Senior Geneticist
Do we always need a WGS? The power of optimized panels and exomes
The increasing availability of whole genome sequencing (WGS) has transformed clinical genetic diagnostics. Nevertheless, broader genomic testing does not necessarily translate into greater diagnostic yield. In this talk, Dr Raquel Pérez Carro will emphasize the importance of selecting the most appropriate genetic test-targeted panels, whole exome sequencing (WES), or WGS–according to the clinical context. Through a series of real clinical cases, she will illustrate scenarios in which optimized panels or WES provide higher diagnostic value as well as scenarios where WGS represents the most suitable approach. Strategic test selection remains essential for accurate, efficient, and clinically meaningful genetic diagnosis.
Presented by: Raquel Pérez Carro, PhD, Geneticist
Poster Presentations
Large mitochondrial deletions detected from blood, saliva, or buccal swab in a single clinical genetic testing laboratory
Presenter: Pernilla von Nandelstadh, PhD, Senior Geneticist
Genetic findings in a cohort of over 600 patients tested with a multi-gene hereditary neuropathy panel
Presenter: Saija Ahonen, PhD, Senior Geneticist
Interested to learn more?
- Browse our genetic tests: Panels and Whole Exome Sequencing
- Access our latest publications and webinar archive
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 #536 during the conference!
