Whole Exome Sequencing (WES) is a powerful diagnostic tool, especially when performed as a family trio, which typically involves sequencing samples from both parents and their affected child. In this presentation, Dr Saija Ahonen and Dr Kirsty Wells will highlight the advantages of trio WES analysis, demonstrating how this approach can facilitate variant interpretation, enable more accurate variant classification, and allow testing to be completed in a single step. Through patient case examples, the presenters will illustrate how high-quality trio WES analysis and interpretation can be transformative in unlocking answers for patients.
Webinar objectives:
- Explain the benefits of performing WES analysis as a family trio.
- Demonstrate how trio WES analysis facilitates the detection of de novo variants, enables variant phasing, and supports mitochondrial DNA interpretation.
- Highlight the value of trio-based WES analysis through illustrative patient case examples.
Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience.
Difficulties joining the webinar? Click here.
If you would like to attend this webinar in Spanish, click here.
Speakers
Saija Ahonen
Saija Ahonen, PhD, is a Senior Geneticist at Blueprint Genetics, specializing in interpretation of whole exome sequence data. Before joining Blueprint in 2019, she completed her PhD at the University of Helsinki in canine inherited disease. Followed by postdoctoral research studying paediatric neurodegenerative disease at the Hospital for Sick Children in Canada.
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.