Webinar information
To watch the webinar, click here.
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
Raquel Pérez Carro, PhD, genetista en Blueprint Genetics, ha trabajado 10 años en el ámbito de la genética humana adquiriendo un amplio conocimiento de las distintas aproximaciones de diagnóstico molecular. Antes de formar parte del equipo de Blueprint Genetics, Raquel comenzó su carrera profesional en el Centro de Biología Molecular (CBM-CEDEM, Madrid), completó su doctorado en el Servicio de Genética de la Fundación Jiménez Díaz (IIS-FJD, Madrid) incluyendo una estancia en el Departamento de Genética Humana de Radboud University Medical Centre (Nijmegen, Holanda) y, durante los últimos años, ha trabajado en un laboratorio privado de diagnóstico molecular, acumulando amplia experiencia en el estudio de enfermedades genéticas.