Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

BACKGROUND: Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who have atypical clinical presentations, especially in...

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Detalles Bibliográficos
Autores principales: Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lancet Pub. Group 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850201/
https://www.ncbi.nlm.nih.gov/pubmed/35182509
http://dx.doi.org/10.1016/S1474-4422(21)00462-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850201/
https://www.ncbi.nlm.nih.gov/pubmed/35182509
http://dx.doi.org/10.1016/S1474-4422(21)00462-2

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