Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

BACKGROUND: Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity to make definitive molecular diagnoses using a single assay capable of detectin...

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Detalles Bibliográficos
Autores principales: Greer, Stephanie U., Botello, Jacquelin, Hongo, Donna, Levy, Brynn, Shah, Premal, Rabinowitz, Matthew, Miller, Danny E., Im, Kate, Kumar, Akash
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257846/
https://www.ncbi.nlm.nih.gov/pubmed/37301971
http://dx.doi.org/10.1186/s12967-023-04243-y

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