The Scientist

Genetic Variant Classification: Challenges and Advancements

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 ...
Medical Xpress

Assessing clinical implementation of past standards for interpretation and reporting of sequence variants in cancer

The Association for Molecular Pathology (AMP) has published a report that was designed to assess clinical adoption, identify classification inconsistencies, and evaluate implementation barriers for ...
technologynetworks

Researchers Reclassify Hundreds of Hereditary Colorectal Cancer Gene Variants As Benign

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 ...
Nasdaq

Firefly Neuroscience, Inc. Collaborates with Heidelberg University Hospital on EEG Study of 15q13.3 CNVs to Advance Precision Neuroscience

Firefly Neuroscience, Inc. is collaborating with Prof. Dr. Christian Schaaf from the Institute of Human Genetics at Heidelberg University Hospital on a study investigating the neurophysiological ...
EurekAlert!

AMP assesses clinical implementation of past standards and guidelines for interpretation and reporting of sequence variants in cancer

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 ...