Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries

This study demonstrates that an appropriate cut-off value is an important prerequisite for establishing a semi-quantitative method to determine the SMN1 copy numbers. Compared to conventional methods, our ddPCR assay is low-cost, highly accurate, and has full potential for application in population spinal muscular atrophy carriers screening.PMID:38325644 | DOI:10.1016/j.ejmg.2024.104921
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Source Type: research