AI Article Synopsis
- The MinION is a small and affordable DNA sequencer that can check for genetic problems in real-time.
- In a study, it successfully found all known mutations related to Dravet Syndrome in DNA samples from patients, matching results from other testing methods.
- However, the MinION couldn’t find certain types of genetic changes called insertions/deletions, so more work is needed to improve its detection abilities.
Article Abstract
The MinION is a portable DNA sequencer that allows real time sequencing at low capital cost investment. We assessed accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sanger sequencing were sequenced using the MinION. SCN1A amplicons for 8 exons were sequenced using the MinION with 1D chemistry on an R9.4 flow cell. All known missense mutations were detected in all samples showing 100 % concordance with results from other methods. However, the MinION failed to detect the insertions/deletions (INDELs) present in these patients. Nevertheless, these results indicate that MinION is a cost-effective platform for use as an initial screening step in the detection of nucleotide substitution mutations in in SCN1A, especially in under-resourced laboratories or hospitals. Further improvements are required to reliably detect INDELS in this gene.
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| http://dx.doi.org/10.1016/j.eplepsyres.2021.106593 | DOI Listing |
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