Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewed
Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing
Kun Li, Daniel Quiat, Fei She…·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.
2 citations