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High-resolution mapping of <i>DMD</i> duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy

2025-08-14

Abstract excerpt

<h4>Purpose</h4> Exon-level duplications in the DMD gene present interpretive challenges due to limitations in resolving their genomic context. We aimed to assess the utility of long-read genome sequencing (lrGS) in characterizing DMD duplications and guiding clinical interpretation. <h4>Methods</h4> We applied low coverage lrGS (3–10× depth; ∼8.2 kb mean read length) to 18 individuals with DMD duplications iden...

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Literature Corpus work
cbefdc9d-1569-54d5-999b-f381abafc29b
DOI
10.1101/2025.08.11.25333458
Open publication

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High-resolution mapping of <i>DMD</i> duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophyDOI 10.1101/2025.08.11.25333458
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