Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Abstract We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods. We employed the real-time target enrichment system of the nanopore GridION sequencer using the adaptive sampling option, in which sof...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2022-10-01
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Series: | npj Genomic Medicine |
Online Access: | https://doi.org/10.1038/s41525-022-00331-y |