Hereditary cancer syndromes are a set of complex diseases, often presenting with diverse clinical phenotypes involving multiple genes of interest with variable penetrance. Large-scale genomic sequencing of multi-gene panels has become the standard of care.

However, this approach identifies a multitude of novel variants, encompassing a wide range of variant types, from duplications and deletions to single nucleotide variants. Interrogating and classifying these variants with respect to pathogenicity or inherent risk for a suspected hereditary cancer syndrome requires the review of an abundance of information, from population data to evolutionary conservation assessment to functional studies and literature reviews.

In this webinar, we will show how Alamut™ Visual Plus has the computational power to pull data sources together, allowing for a consolidated and consistent approach to genomic variant interpretation in the context of hereditary cancers. In addition, we will give a brief overview of the Mastermind© Genomic Search Engine and how the AI-powered tool reduces turnaround time, increases diagnostic yield, and accelerates throughput for genomic variant interpretation.

Part 1
Title: Finding impact amongst the depths of genomic information
Speaker: Laura Semenuk, BSc, MLT
Duration: 25 min

Part 2
Title: Mastermind, genomic search engine
Speaker: Dr. Mark Kiel, MD, PhD
Duration: 10 min

Part 3
Title: Q&A session
Speakers: All
Duration: 7-8 min

Disclaimer notice:
The term SOPHIA used by the speaker refers to SOPHiA GENETICS and its products.
The opinions expressed during this presentation are these of the speaker and may not represent the opinions of SOPHiA GENETICS.
SOPHiA GENETICS does not provide support in the validation of custom products for clinical use.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us at support@sophiagenetics.com to obtain the appropriate product information for your country of residence.
Laura Semenuk, BSc, MLT
Senior Clincial Laboratory Technologist
Laura Semenuk graduated from Western University with a Bachelor of Science Honors Genetics degree in 2007 and went on to obtain her Medical Laboratory Technologist (MLT) certification in the field of clinical genetics. She has worked as an MLT for 13 years, spending the last 7 years at the Kingston Health Sciences Centre, where she is currently a Senior Technologist with laboratory oversight and focus on the development, optimization and analysis of complex genomics assays for hereditary cancer syndromes, hematologic disorders and solid tumour testing.
Mark Kiel, MD, PhD
Co-founder & Chief Science Officer
Mark completed his MD PhD and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies and clinical bioinformatics. He is the founder and CSO of Genomenon, where he supervises the scientific direction of the Mastermind suite of software tools.
Zeineb Achour, PhD
Clinical Application Product Manager
Zeineb is a scientist with a background in molecular biology and bioinformatics, and she will be the moderator of this session. She worked in the Plant genomics field where she specialized in maize epigenomics. She is now responsible for the scientific and technical management of the Alamut product line, a tertiary analysis application which assists scientists performing human genomic variants interpretation.
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