A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
Jin-li Bai, Yu-jin Qu, Wen‐Chen Huang, Wanli Meng, Jiahan Zhan, Hong Wang, Wen-Qi Hou, Yuwei Jin, Aiping Mao, Fang Song
Topics & Concepts
Spinal muscular atrophyGenetic diagnosisComputational biologyMedicineFidelityBioinformaticsGeneticsComputer scienceBiologyPathologyGeneDiseaseTelecommunicationsNeurogenetic and Muscular Disorders ResearchGenetic Neurodegenerative DiseasesCardiomyopathy and Myosin Studies