Dr. Rachid Karam explains how RNA testing increases diagnostic yield and reduces variants of uncertain significance in cancer and exomes.
All tagged whole exome sequencing
#297 Exome Reanalysis with Ambry Genetics
The “Patient For Life” exome reanalysis program is explored with Ambry Genetics’ Chief Medical Officer, Dr. Elizabeth Chao, and the VP of Medical Affairs and a seasoned Genetic Counselor, Kelly Hagman.
#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.
#268 Optical Genome Mapping and Transcriptome Analysis with Peter Nagy
Praxis Genomics’ Chief Medical Officer explains how these genetic technologies can provide advantages over traditional testing methods.
#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde
Geneticists Hong Li and Madhuri Hegde explore the utilization of rapid whole genome sequencing in the NICU setting.
#215 Preventative Health via Whole Exome Sequencing
The Founder and CEO of Panacea discusses utilizing whole exome sequencing for preventive health.
#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.
#177 Whole Genome Sequencing with PerkinElmer Genomics
Dr. Madhuri Hegde of PerkinElmer Genomics explores whole genome sequencing
#146 Jo Bhakdi on Whole Exome Sequencing
Quantgene’s Founder and CEO explains whole exome sequencing including the technology, cost, which disorders can be diagnosed, and the possible future uses.