Article

Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy Type 1 Using Rare Variant Linkage Analysis and Long Read Genome Sequencing

2023-06-06

Abstract excerpt

Facioscapulohumeral dystrophy type 1 (FSHD1) is a progressive, debilitating skeletal myopathy that requires a multimodal approach for complete molecular characterization of pathogenic genotypes. Here, we report genomic analyses of a family with suspected facioscapulohumeral dystrophy type 1 (FSHD1). We first performed short read genome sequencing, followed by parametric linkage analysis using rare variants to map...

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Literature Corpus work: 2be543fd-ff88-5530-98db-1b46ad9807e5
DOI: 10.1101/2023.06.05.23290975

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