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 ...
Interpretation is the discipline through which molecular datasets reveal their significance. As the life sciences enter a new era defined by data richness and technological capacity, interpretive ...
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 ...
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 ...
Competing to offer a comprehensive genomic profiling service for solid or hematology oncology tumor samples is challenging, especially as panels increase in size and complexity. QIAGEN Clinical ...
Molecular tumor profiling is becoming a routine part of clinical cancer care, typically involving tumor-only panel testing without matched germline. We hypothesized that integrated germline sequencing ...
Understanding how the wealth of genetic variation in the human genome impacts on disease could potentially transform healthcare, but while we know the consequences of perhaps a handful of specific ...
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