Clinical Validity Assessment of Gene-Disease Associations for Variant Classification

Explore the crucial role of clinical validity assessment in gene-disease associations and its impact on variant classification in this 41-minute video presentation from Ambry Genetics. Learn how curating gene-disease associations aids in clinical diagnosis and patient management as massive genetic data becomes available. Discover the importance of evaluating phenotypic spectrums associated with gene variants and understanding molecular mechanisms behind phenotypic variability. Gain insights into how standardized assessment of gene-disease associations can enhance variant pathogenicity determination for clinical reporting. Presented by Dr. Deepali Shinde, a Clinical Genomics Scientist with expertise in molecular biology and diagnostic assay development, and moderated by Brooke Overstreet, a certified Genetic Specialist with experience in clinical genetic counseling across various medical specialties.

How Can Clinical Validity Assessment of Gene Disease Associations Aid in Variant Classification?