Date: October 23, 2025
Time: 5:00 PM CEST
Part I: Unlocking answers for patients: how optimized whole-exome sequencing takes the lead
Whole-exome sequencing (WES) is a powerful diagnostic tool, particularly valuable in complex cases and situations where previous genetic testing has been inconclusive. In this presentation, Dr Kirsty Wells will showcase cases solved by an optimized whole-exome sequencing assay that includes custom targeted noncoding variants, high depth and coverage, advanced CNV detection, and AI-driven variant prioritization. Additionally, the significance of skilled interpretation and up-to-date gene-disease associations will be emphasized. Dr Wells will demonstrate how high quality whole-exome sequencing, analysis and interpretation lead the way in unlocking answers in the most challenging cases.
Presented by: Kirsty Wells, PhD, Senior Geneticist
Part II: Beyond the nucleus: combining WES with mtDNA analysis
Defects in mitochondrial DNA (mtDNA) lead to dysfunction of the mitochondrial respiratory chain, resulting in disorders that vary in phenotype, affected tissue(s), and severity, making diagnosis challenging. In this talk, Dr Raquel Pérez will review the capabilities of an NGS-based mtDNA assay performed in parallel with nuclear DNA analysis and outline key considerations for mitochondrial genome testing and reporting. Through compelling case examples, Dr Raquel Perez will demonstrate the clinical impact of this comprehensive testing approach.
Presented by: Raquel Pérez Carro, PhD, Geneticist
Speakers
Kirsty Wells
Kirsty Wells, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of ophthalmology panel and whole exome sequence data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, Kirsty completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Kirsty is a UK-certified Clinical Scientist.
Raquel Pérez Carro
Dr Raquel Pérez Carro, PhD, is a geneticist in the Clinical Interpretation Team at Blueprint Genetics specialized in whole-exome sequencing interpretation and reporting, and is actively involved in WES-related projects. She completed her PhD in retinal dystrophies and, with over 13 years of experience in the field of human genetics, she has developed a deep understanding of different molecular genetics techniques to study inherited diseases, with a particular focus on NGS approaches.
More details here