Baylor Genetics’ Chief Medical Officer Dr. Christine Eng explains how RNA sequencing complements DNA testing to unlock diagnoses for rare disease patients.
All tagged variant of unknown significance
#334 ACMG 2025 Recap
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.
#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)