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

Abstract 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...

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Auteurs principaux:	Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2023-06-01
Collection:	Journal of Translational Medicine
Sujets:	Long-read sequencing Oxford Nanopore Technologies Adaptive sampling Copy number variants Neurodevelopmental disorders Clinical testing
Accès en ligne:	https://doi.org/10.1186/s12967-023-04243-y
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