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

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 neurop...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Biomedicine and Life Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8896783/
https://www.ncbi.nlm.nih.gov/pubmed/35245110
http://dx.doi.org/10.1126/sciadv.abm5386

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