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 ...
The Association for Molecular Pathology (AMP), the premier global molecular diagnostic professional society, has published a report that was designed to assess clinical adoption, identify ...
Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study The use of the American College of Medical Genetics and Genomics and the Association for Molecular ...
The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...
Copy number variant (CNV) analysis has been part of clinical diagnostics for almost two decades. With the evolution of genomic technologies for CNV detection, we have learned that CNVs can range in ...
Marcy Richardson from Ambry Genetics discusses the importance of a new study that assessed the functional impact of thousands of BRCA2 variants, identifying those that may increase cancer risk. What ...
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 ...
Parents’, Health Care Professionals’, and Scientists’ Experiences of a Precision Medicine Pilot Trial for Patients With High-Risk Childhood Cancer: A Qualitative Study To compare the classification of ...
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