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 ...

Pansarcoma Analysis of Cyclin-Dependent Kinase and Cyclin Outlier Gene Expression Highlights CDK7 as a Potential Therapeutic Target in Chordoma Human epidermal growth factor 2 (HER2/ERBB2) has ...

This image illustrates the typical steps in next-generation sequencing (excluding single-molecule sequencing methods). The process begins with isolating genomic DNA (a) and breaking it into short ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...