Article

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing

2026-05-01

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Tandem repeat expansions (TREs) cause over 60 known neurological, neuromuscular, and developmental disorders. Detecting these expansions genome-wide is challenging due to their size, sequence complexity (including interruptions), and population variation. While long-read sequencing is an emerging technology that can fully resolve many TREs, no methods have been described for...

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Literature Corpus work: 1cdc5400-b43a-56ef-a963-a6847bce2e9a
DOI: 10.64898/2026.04.30.26352103

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