Article

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a large Turkish Neurodegeneration Cohort

2026-03-10

Abstract excerpt

Short tandem repeat (STR) expansions are a major cause of neurodegenerative disorders; however, their genetic and clinical heterogeneity complicates diagnosis. STR detection remains limited in routine short-read next-generation sequencing (NGS) workflows. We evaluated the diagnostic yield and clinical utility of computational STR genotyping in a large Turkish neurodegenerative disease cohort. ExpansionHunter was a...

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Literature Corpus work: 2c28b22b-2698-57c8-b03e-68bc604f7b9d
DOI: 10.20944/preprints202603.0755.v1

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