Dr. Lora Bean, Senior Director of Quality Assurance at PerkinElmer Genomics, discusses the role that phenotypic data plays in analyzing genetic data.
All tagged PerkinElmer Genomics
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
World-renowned geneticist, Madhuri Hegde, and Genetic counselor, Ann Martin discuss the genetics of Duchenne Muscular Dystrophy (DMD) and potential treatments.
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Patient advocate, Bryan Kelly, & HemoShear CMO, Dr. Pat Horn, discuss life with Proprionic and Methylmalonic Acidemia and an investigational therapy.
#187 Facioscapulohumeral Muscular Dystrophy with June Kinoshita and Rojan Kavosh
The fascinating genetics of FSHD is discussed including diagnosis through whole genome optical mapping.
#177 Whole Genome Sequencing with PerkinElmer Genomics
Dr. Madhuri Hegde of PerkinElmer Genomics explores whole genome sequencing