Improvements in Clinical Interpretation of Copy Number Variants CNVs | Webinar | Ambry Genetics

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Copy number variant (CNV) detection has been part of clinical diagnostics for almost 2 decades. With the continuous evolution of genomic technologies for CNV detection, we have learned that CNVs can range in size from tens of bases to megabases, and are an important source of both normal and pathogenic genomic variation. CNV interpretation requires collecting and evaluating multiple types of evidence from various sources, which has posed challenges for consistent, high quality clinical interpretation of CNVs. Despite some existing guidelines, there are discrepancies between laboratories, technologies, and specialties, in interpreting and weighing the importance of existing evidence towards and against CNV pathogenicity. These challenges have highlighted the need for quantitative, evidence-based evaluation framework for CNVs. In this webinar, we will summarize the various challenges in CNV classification and illustrate through concrete examples how utilization of unified guidelines will reduce variant classification discrepancies and improve the quality of CNV interpretation.

Presented by:
Mari Rossi, MS, PhL | Presenter
Clinical Scientist, Ambry Genetics

Mari Rossi is a Rare Disease Scientist at Ambry Genetics where she analyzes clinical diagnostic exome data and SNP microarray data, entailing variant interpretation, gene characterization, and new disease gene discoveries. She participates in publication of novel genetic findings and methods, and recently co-led the efforts to develop a CNV classification scheme to be used in clinical diagnostic laboratory setting. After graduating with MSc in Human Genetics, she earned a Licentiate of Philosophy degree from the University of Helsinki and her research at the Institute for Molecular Medicine Finland focused on mapping rare genetic variants contributing to autism spectrum disorders.

Vruti Mehta, MS, CGC, LGC | Moderator
Supervisor, Reporting - Rare Disease: Microarray, Ambry Genetics

Ms. Mehta completed her Master of Science in Biotechnology from University of Mumbai in 2008 and her M.S. in Genetic Counseling from University of South Carolina in 2012. Prior to joining Ambry Genetics in 2014, she worked as a laboratory genetic counselor for Signature Genomics. As a Rare Disease Genetic Counselor Supervisor, she overlooks the SNP array reporting team which performs SNP array data analysis, CNV interpretation and reporting.

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