Article

Long-read cross-platform validation reveals novel repeat features in myotonic dystrophy type 2

2026-06-10

Abstract excerpt

<h4>ABSTRACT</h4> The broader application of long-read sequencing (LRS) for repeat expansion characterization in myotonic dystrophy type 2 (DM2) and other repeat expansion disorders (REDs) remains limited by the lack of systematic validation and benchmarking of sequencing results and bioinformatic workflows. Here, we performed an orthogonal cross-platform validation of previously generated Oxford Nanopore Technol...

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Literature Corpus work: a4e8e7f2-7485-5fad-800b-bf39eaf78f0f
DOI: 10.64898/2026.06.06.730578

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