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.