GenomicsJournal of Medical GeneticsPeer-reviewed
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
Yi Dai, Pidong Li, Zhiqiang Wang…·Kai Wang
This paper develops a single-molecule optical mapping method for quantitative D4Z4 repeat analysis in FSHD, showing concordance with Southern blot and improved haplotype resolution.
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