Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...
On January 29, 2018, the US Food and Drug Administration held a public workshop entitled, “Weighing the Evidence: Variant Classification and Interpretation in Precision Oncology.” Here, we discuss the ...
For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...
ROCKVILLE, Md. – Dec. 13, 2022 – The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, has published a report that was designed to assess ...
The genetic confirmation of a suspected diagnosis of "hereditary colorectal cancer" is of great importance for the medical care of affected families. However, many of the variants identified in the ...
Individualized Screening Trial of Innovative Glioblastoma Therapy (INSIGhT): A Bayesian Adaptive Platform Trial to Develop Precision Medicines for Patients With Glioblastoma Next-generation sequencing ...