Bioinformatics and Computational Terminology for the Clinic - Webinar - Ambry Genetics

Explore the intricacies of bioinformatics and computational genetics in clinical genetic testing reports through this informative 55-minute webinar presented by Ambry Genetics. Delve into the complexities of NGS panel and exome-sequencing tests, focusing on demystifying commonly used terminology such as depth, coverage, and reporting ranges. Learn from expert presenters Dr. Brice Sarver, Rishona Lavy, MS, CGC, and Tara Namey, MS, LCGC, as they break down the computational analysis of raw sequencing data. Gain insights into panel design, the differences between panels and exome sequencing, and the significance of coverage and depth in genetic testing. Understand variant detection using NGS, including allelic depth, heterozygote calling, and mosaicism identification. Discover the importance of uniformity, quality scores, and confirmatory testing in genetic analysis. Explore topics such as copy number variant identification, raw data requests, genome alignment, and statistics in variant calling. Enhance your understanding of bioinformatics concepts crucial for interpreting clinical genetic testing reports and improve your ability to assist patients with genetic information.

Intro
Outline
What to target?
Panel design
Panels vs. Exome
What do we mean by "coverage"?
Average vs. Percent Covered on NGS
What is an appropriate depth?
What's happening in regions with low depth?
Variant Detection using NGS • Allelic depth can be used to summarize the information supporting a call
Calling heterozygotes and identifying mosaicism
Uniformity and Quality
What is a Phred-scaled quality score?
Notes on confirmatory testing
Identifying copy number variants
Requests for raw data
Review: aligning to a genome
Review: statistics in variant calling
What type of file is required?
Summary