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Article

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Science advances - 4 Mar 2022

Stevanovski Igor, Chintalaphani Sanjog R, Gamaarachchi Hasindu, Ferguson James M, Pineda Sandy S, Scriba Carolin K, Tchan Michel, Fung Victor, Ng Karl, Cortese Andrea, Houlden Henry, Dobson-Stone Carol, Fitzpatrick Lauren, Halliday Glenda, Ravenscroft Gianina, Davis Mark R, Laing Nigel G, Fellner Avi, Kennerson Marina, Kumar Kishore R, Deveson Ira W

Abstract excerpt

More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore's ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and DNA methylation...

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Source

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Identifiers

PMID: 35245110
DOI: 10.1126/sciadv.abm5386
PMCID: PMC8896783

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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