NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

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 ...