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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2023-06-01
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Series: | Journal of Translational Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1186/s12967-023-04243-y |