Nanopore sequencing quickly and accurately diagnoses rare genetic disorders

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Using nanopore series, a fast-paced third-generation cytogenetic research tool, researchers are now able to identify specific genetic mutations in a relatively short period of time to conduct traditional cytogenetic and pathological experiments . This facilitates the diagnosis of post-traumatic stress disorder and promotes improved clinical care for patients and their families. Their work appears in it Journal of Bacteria.

Nanopore followers are a third-generation generation technology that allows direct, realistic analysis of long DNA or RNA fragments. Of the many types of applications, it proves to be the most effective in detection ten different copies (CNVs). CNVs add or subtract copy material from inside chromosomes, and they are subject to many neurological, psychiatric, and disability conditions. Generally, CNVs are analyzed by cytogenomic techniques with limited limits depending on resolution and rotation times.

“Conventional cytogenetics and chromosomal microarray analysis are still the golden standard for the detection of large CNVs and small, in turn, and double-layered structures, optimized for molecular modifications, adapted to detect CNVs, ”said lead researcher Alberto Magi, Ph.D. .D., Department of Information Engineering, University of Florence, Florence; and the Center for Biomedical Technology, National Research Council, Segrate, Milan, Italy. “But because they are smart, expensive and often incomplete, patients are given genetic tests in a row until the cause of the genetic predisposition is found. This can lead to weeks of uncertainty. or even months. We want to see if a new third-generation technology, the long-read nanopore series, can speed up this process. “

The long-studied nanopore system can solve similarities and replicate genomic regions, enhancing CNV detection and mapping. Nanopore technologies are easy to use and have the ability to complete system implementation in 24 to 48 hours. They have the added benefit of allowing data analysis in real time, while the implementation process is ongoing, which can reduce well detection time. This advanced research tool is suitable for widespread use in molecular laboratories.

The researchers tested DNA samples from seven patients with CNVs previously identified of different types and levels of mosaicism, (i.e. CNV does not include all body parts, but only part of them). The samples were tested using the long-read nanopore series technology, Nano-GLADIATOR. It is used in online mode for periodic reading of readings in multiple locations from 30 to 48 minutes, and in online mode to evaluate the complete nanopore resolution is running for different molecular modifications sizes. Product-to-effect times were compared with an array of genomic genes (aCGH). The researchers also evaluated the sensitivity and specificity of the nanopore system to detect small CNVs.

Studies show that the diagnosis of major chromosomal changes can be made in one day, while the turnaround time for small CNVs is estimated to be two days. This represents a significant improvement compared to conventional testing for CNVs, with the average reporting time ranging from three to 15 days.

In addition, nanopore series can detect mosaic CNVs with higher sensitivity than aCGH. In fact, it detected a CNV mosaic in a patient sample that was not referred to by aCGH diagnostic algorithms.

“Pathogenic mosaic differences were detected in approximately 0.3% to 0.77% of the affected patients. immaturity, “Co-researchers Tommaso Pippucci, Ph.D., and Pamela Magini, Ph.D., UO Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy, note.” . mosaicism is limited, the frequency can be calculated. In addition, mosaicism can be lost in parents with de novo pathogenic CNVs, leading to inaccurate guidance on the risk of relapse and control of future cognitive impairment. ”

“Over the years, medical genetics have undergone a revolution through rapid technological innovation. Nanopore sequencing fits perfectly with this genetic evolution, improving the detection of certain types of genetic mutations. which was abandoned for technical reasons, “said co-researcher Alessandra Mingrino. Ph.D., and Barbara Gega, BSc, Department of Experimental Medicine, University of Florence, Florence, Italy. “Fast-acting technology can reduce technological downtime and improve the efficient detection of genetic disorders resulting in chromosomal gain or loss.”

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Learn more:
Pamela Magini et al, Third-Century Cytogenetic Studies, Journal of Bacteria (2022). DOI: 10.1016 / j.jmoldx.2022.03.013

hint: Nanopore series quickly and accurately diagnoses rare diseases (2022, June 13) Retrieved 13 June 2022 from -accurately-rare.html

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