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.

Intro
Disclosures/ Conflict of Interest
Sequencing & Alignment
Alignment of Reads
"Raw data" file types
Coverage Metrics
What types of alterations are not reliably detected on exome?
Data Filtering Lab dependent Computational filtering
Inheritance Filtering
Importance of good phenotypic data
The ACMG recommends exome sequencing for the following indications
Clinical Indications
What Makes Exome Unique?
Exome's ability to detect multiple diagnoses
Multiple Diagnosis Rate Predictions
Tool for Gene Discovery Exome has increased the rate of gene characterization
Exome in Gene Discovery
Panel vs. Exome vs. Genome Gene Panels
Case Example 1 (cont.)
Case Example 2: Results Exome analysis revealed 2 de novo alterations - Two distinct diagnoses that account for the patient's full phenotype Unlikely that these would be present on the same gene panel