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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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Wedi'i Gadw mewn:
Prif Awduron: Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im, Akash Kumar
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMC 2023-06-01
Cyfres:Journal of Translational Medicine
Pynciau:
Long-read sequencing
Oxford Nanopore Technologies
Adaptive sampling
Copy number variants
Neurodevelopmental disorders
Clinical testing
Mynediad Ar-lein:https://doi.org/10.1186/s12967-023-04243-y
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