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Article

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing.

Nucleic acids research - 11 Jan 2025

Van Deynze Kinsey, Mumm Camille, Maltby Connor J, Switzenberg Jessica A, Todd Peter K, Boyle Alan P

Abstract excerpt

Tandem repeat sequences comprise approximately 8% of the human genome and are linked to more than 50 neurodegenerative disorders. Accurate characterization of disease-associated repeat loci remains resource intensive and often lacks high resolution genotype calls. We introduce a multiplexed, targeted nanopore sequencing panel and HMMSTR, a sequence-based tandem repeat copy number caller which outperforms current...

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Identifiers

PMID: 39676678
DOI: 10.1093/nar/gkae1202
PMCID: PMC11754662

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