Webinar: Breaking the interpretation bottleneck

Examining the utility of an automated genomic interpretation algorithm in a clinical genetic lab

Dr. Linyan Meng
Dr. Linyan Meng
Guest
Division Director, Division of Clinical Genomics Interpretation
Baylor Genetics
Dr. Shay Tzur
Dr. Shay Tzur
Host
Chief Science Officer
Emedgene

The utilization of exome and genome sequencing in clinical practice has become widespread in recent years. However, the genotype-phenotype interpretation remains challenging and time-consuming. By automating the variant prioritization and classification processes, machine learning technologies can unblock the genomic interpretation bottleneck, and improve the power and efficiency of the analysis.

Dr. Meng will present the results of a joint Baylor Genetics-Emedgene study demonstrating the utility of machine learning for interpretation in a 180-case cohort.

Dr. Tzur will follow with a presentation of the machine learning capabilities in action, displaying their value in a case review.