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.
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
SAN FRANCISCO, California — An update on the use of whole-exome sequencing to diagnose patients who have exhausted conventional approaches kicked off the American Society of Human Genetics 62nd Annual ...