Kira Dineen and Karl Krahn recap and reflect on their first attendance at the American College of Medical Genetics (ACMG) 2025 conference in Los Angeles.
All tagged variant of unknown significance
#325 Revolutionizing Variant Curation with MAVEs
Drs. Fowler and Starita explain how multiplexed assays of variant effect are helping to curate variants. Fast.
#312 What is a Genome Health Analyst? Exploring NYU and Sarah Lawrence's New Master’s Program
Co-Directors of the new Master's of Science in Genome Health Analysis program, Dr. Claire Davis and Anna Cantor, share about this exciting new career path in genomics.
#285 AI To Enhance Variant Curation with Daniel Uribe
A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
#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)