Drs. Fowler and Starita explain how multiplexed assays of variant effect are helping to curate variants. Fast.
All tagged VUS
#303 RNA Analysis with Ambry Genetics
Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
#296 Epigenetics and Beyond: Dr. John Greally's Journey
Exploring genomics while serving communities in The Bronx, the evolving study of epigenetics, and learning through personal insight from a clinical geneticist.
#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean
Dr. Lora Bean, Senior Director of Quality Assurance at PerkinElmer Genomics, discusses the role that phenotypic data plays in analyzing genetic data.
#73 Jenna Guiltinan on Laboratory Genetic Counseling
Discuss classification of genetic variants including Variants of Unknown Significance (VUS)