Article

TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis

2026-01-23

Abstract excerpt

<h4>ABSTRACT</h4> Expanded short tandem DNA repeats are implicated in over 60 human disorders. In many, somatic instability (SI) of the repeat plays a critical role in disease pathogenesis. For example, SI in vulnerable neurons is a key driver of clinical symptoms in Huntington’s disease. Quantifying SI has traditionally relied on PCR followed by capillary electrophoresis, with metrics describing the shape of rep...

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Literature Corpus work: 89316e65-a176-5099-85e0-dc9e53bba375
DOI: 10.64898/2026.01.22.701167

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