Simple Workflows for Complex Genomics: Expanding Clinically Relevant Findings with Enhanced Exomes

Whole-exome sequencing (WES) is widely used in both clinical and research settings, but current implementations require trade-offs between genomic breadth, sensitivity, and workflow complexity. As a result, labs typically maintain multiple assays to meet different kinds of testing.

In this GEN webinar, Guilherme Yamamoto, MD, PhD, and Sevana Yaghoubian will present a novel whole-exome assay for detecting high-confidence variants across multiple applications. Using examples from rare diseases, newborn and carrier screening, and targeted analysis for cardiovascular, neurological, ocular, and metabolic disorders, they will explore how combining targeted probe enhancements with robust analytics improves performance in challenging genomic regions. They will also discuss how these enhanced exome assays can extend beyond germline testing through secondary screening for common somatic variants in hematologic cancers. Key takeaways from the webinar include:

• How innovations in enhanced WES are reducing hands-on time, and optimizing costs, and scalability for diverse testing
• Practical considerations for whole exome project design for advanced clinical and research applications using the SOPHiA DDM Enhanced Whole Exome solution
• How enhanced assays extend beyond germline testing to include secondary somatic variant screening

A live Q&A session will follow the presentations, offering you a chance to pose questions to our expert panelists.

Produced with support from: