ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.

Ludmila Kaplun¹, Greice Krautz-Peterson¹, Nir Neerman¹, Yocheved Schindler¹, Elinor Dehan¹, Claudia S Huettner¹, Brett K Baumgartner¹, Christine Stanley¹, Alexander Kaplun¹

¹Variantyx Inc., Framingham, MA 01701, USA.

PubMed PMC DOI PDF

Abstract

While whole-genome sequencing (WGS) using short-read technology has become a standard diagnostic test, this technology has limitations in analyzing certain genomic regions, particularly short tandem repeats (STRs). These repetitive sequences are associated with over 50 diseases, primarily affecting neurological function, including Huntington disease, frontotemporal dementia, and Friedreich's ataxi…

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