Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

Targeted DNA sequencing approaches will improve how the size of short tandem repeats is measured for diagnostic tests and preclinical studies. The expansion of these sequences causes dozens of disorders, with longer tracts generally leading to a more severe disease. Interrupted alleles are sometimes...

Descripción completa

Detalles Bibliográficos
Autores principales: Taylor, Alysha S, Barros, Dinis, Gobet, Nastassia, Schuepbach, Thierry, McAllister, Branduff, Aeschbach, Lorene, Randall, Emma L, Trofimenko, Evgeniya, Heuchan, Eleanor R, Barszcz, Paula, Ciosi, Marc, Morgan, Joanne, Hafford-Tear, Nathaniel J, Davidson, Alice E, Massey, Thomas H, Monckton, Darren G, Jones, Lesley, network, REGISTRY Investigators of the European Huntington’s disease, Xenarios, Ioannis, Dion, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Standard Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9719798/
https://www.ncbi.nlm.nih.gov/pubmed/36478959
http://dx.doi.org/10.1093/nargab/lqac089

Ejemplares similares

Ejemplares similares