Researchers use Oxford Nanopore technology to develop unique test method to characterize over 50 genetic diseases
In a study published in Science Advances, a team from the Garvan Institute of Medical Research, Australia, described how their method using Nanopore sequencing technology has the potential to reduce the “diagnostic odyssey” for people with neurological and neuromuscular diseases. rare
OXFORD, UK /ACCESSWIRE/March 8, 2022/ A new DNA sequencing-based test method developed by a team led by Ira Deveson, head of genomic technologies at the Garvan Institute for Medical Research and collaborators, has been shown to screen for more than 50 neurological diseases and neuromuscular genetics. This new workflow accurately identifies diseases caused by unusually long and repetitive DNA sequences in a person’s genes, known as short tandem repeat (STR) expansion disorders. Current genetic testing for these disorders can involve multiple tests, such as muscle or nerve biopsies, and take much longer, sometimes years of investigation, to come to an answer.
STR repeat extensions typically cover a longer region of DNA than the read lengths generated by short-read sequencing technology. To address this, the research teams used Oxford Nanopore technology, which can read fragments of any length and can be programmed to target specific regions of DNA. In a recent presentation [available here] on this work, Ira Deveson described long-read nanopore technology as “the ideal tool”. He went on to discuss the future potential of nanopore sequencing to “solve the problem in one step” by reading STRs end-to-end in a single long read.
In the published study, the team describes how they achieved accurate molecular characterization of all known neuropathogenic STRs in a single workflow, along with DNA methylation, without library preparation or additional costs. Using nanopore sequencing to target specific regions of interest can also be useful in guiding personalized drug selection.
This research demonstrates the potential of nanopore sequencing in disease characterization and the study explains how it could be a powerful approach for STR gene discovery also for previously unsolved cases.
Full Scientists progress publication is available here.
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