Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing
Kun Li, Daniel Quiat, Fei She, Yuanwei Liu, Rong He, Alireza Haghighi, Fang Liu, Rui Zhang, Steven R. DePalma, Ying Yang, Wen Wang, Christine E. Seidman, Ping Zhang, Jonathan G. Seidman
This study uses rare variant linkage analysis and long-read sequencing to identify a pathogenic FSHD1 allele in a family, mapping the disease locus to chromosome 4q35.2.
Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenetic & Genomic Medicine