Webinar: CNVs in Germline Cancer Analysis and Current Challenges by AZoNetwork Webinars

CNVs in Germline Cancer Analysis and Current Challenges

About

The webinar will cover important aspects of the genomic analysis of inherited cancer, including guidelines, challenges, and solutions. It will focus on the importance of copy number variation (CNV) detection in germline cancers highlighting how next generation sequencing (NGS) solutions can deliver complex variant detection in key genes like PMS2, BRCA, and APC, with a complete workflow that offers a real alternative to multiple ligation-dependent probe amplification (MLPA).

Our speakers will present real-world clinical data that demonstrate the benefits of using the GALEAS™ HereditaryPlus targeted NGS panel and its tailored analysis pipeline, developed by Nonacus, for germline variant detection in hereditary cancers.

You will learn:

In this webinar, you will learn how a major UK genomics testing laboratory, based within Birmingham Women's and Children’s NHS Foundation Trust, is addressing the challenges posed by CNV detection in hereditary cancer testing. You will hear what these challenges are and how they are working towards a solution using GALEAS HereditaryPlus.

In addition, you will gain insight into the wealth of bioinformatics behind GALEAS software from its creator, including how it reports SNVs, indels and CNVs providing unparalleled precision in hereditary cancer analysis, regardless of variant or cancer type.

Who should attend this webinar?

Do you work in a clinical setting with an interest in improving testing turn-around times whilst reducing your costs? Do you have concerns though about the technical limitations of NGS? If so, then this webinar is for you and is open to anyone interested and involved in clinical testing. Learn how new developments in NGS techniques result in cost-efficient, robust, higher diagnostic yields providing viable alternatives to MLPA.

Presenters

Samantha Butler

Senior Principal Clinical Scientist, Solid Cancer CORE team, Central and South GLH; West Midlands Regional Genetics Laboratory.

Samantha is presently serving as a Principal Clinical Scientist responsible for managing the Solid Cancer Core team, which encompasses both tumor profiling and inherited cancers, at the West Midlands Regional Genetics Service located in Birmingham (Central and South GLH). Her area of expertise primarily focuses on colorectal and gynecological cancers, as well as breast cancer. Before her 10 years in Birmingham, Samantha gained valuable experience working at Northwick Park Hospital, where she was involved with the polyposis registry, and at St George's Hospital.

Over the course of her 25-year career within the NHS, Samantha has witnessed the significant expansion of genomics testing and its tremendous benefits in advancing personalized medicine. She finds this field to be exceptionally exciting and fulfilling. In addition to her clinical work, Samantha holds an Honorary Senior Lectureship at the University of Birmingham Medical School. She enjoys teaching a diverse range of courses, from Oncology to Omics, to various professionals and students. Furthermore, she actively supervises research projects. Samantha is also a Fellow of the Royal College of Pathologists, where she contributes to the field as an examiner for Genomics and Molecular Pathology.

Samuel Clokie PhD

Director of Bioinformatics & Data Science | Nonacus Ltd

Samuel leads the bioinformatics group at Nonacus - a leader in Non-Invasive Healthcare technologies.

His main focus is developing approaches to detect low level genetic variation in circulating cell-free tumour DNA and FFPE sample types.

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