Basics of Exome Sequencing - Genetics 101 - Ambry Genetics

Explore the fundamentals of exome sequencing technology in this comprehensive 54-minute webinar presented by Meghan Towne, MS, CGC, LGC from Ambry Genetics. Gain insights into the advantages and limitations of this methodology, covering the entire laboratory process from sample preparation to report structure. Learn about sequencing data formats, variant filtering, gene-disease prioritization, and common applications. Discover what makes exome sequencing unique, including its ability to detect multiple diagnoses and its role in gene discovery. Compare exome sequencing to gene panels and genome sequencing through case examples, and understand the clinical indications recommended by ACMG for exome sequencing. Delve into the importance of phenotypic data, inheritance filtering, and the challenges in detecting certain types of alterations. By the end of this presentation, acquire a thorough understanding of exome sequencing technology and its practical applications in genetic diagnostics.