2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Clinical utility evaluation of a NGS based assay for the detection of genetic modifiers in families with reduced penetrance or uncertain copy number variants

Clinical utility evaluation of a NGS based assay for the detection of genetic modifiers in families with reduced penetrance or uncertain copy number variants

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Video Transcription

Video Summary

In this 30-minute video workshop, Dr. Elizabeth MacReady discusses the utility of an X-generation sequencing panel, the Cytoshore Constitutional NGS from OGT, for identifying relevant variants in families with reduced penetrance or uncertain copy number variants. The findings from a pilot cohort were compared to data from chromosome microarray analysis to evaluate the feasibility of the NGS platform for copy number detection and its utility in identifying additional single nucleotide variants affecting phenotype. Dr. MacReady discusses the concept of variable expressivity and the potential role of second hits in contributing to more severe phenotypes. She presents several case examples, including a 2q13 duplication, a 15q13.3 deletion, a 16p13.11 duplication, and a 22q11.2 deletion, where the Cytoshore panel was able to accurately detect the copy number variants. She also highlights the importance of considering additional genetic insults when interpreting results and discusses potential future directions for research and clinical testing. The video concludes with information about a live post-webinar Q&A session and contact details for further questions.

Asset Subtitle

OGT

Keywords

X-generation sequencing panel

Cytoshore Constitutional NGS

reduced penetrance

uncertain copy number variants

variable expressivity

second hits