Genetic & Genomic MedicineGenesPeer-reviewed
Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy
Anja Kovanda, Luca Lovrečić, Goražd Rudolf…·Borut Peterlin
This study evaluates optical genome mapping (OGM) as an alternative to Southern blot for diagnosing facioscapulohumeral muscular dystrophy (FSHD), showing concordance and identifying additional genetic variants in some cases.
6 citations