Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy
Aaron A. Stence, Jon Thomason, Jonathan A. Pruessner, Ramakrishna Sompallae, Anthony N. Snow, Deqin Ma, Steven A. Moore, Aaron Bossler
Topics & Concepts
Facioscapulohumeral muscular dystrophyMuscular dystrophyComputational biologyGenomeGeneticsBiologyMedicineGeneMuscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin Studies