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2023: A year in studies


Featured | March 7, 2024

2023 was an excellent year for Devyser, and a range of our products appeared in scientific journals throughout the year. Articles in peer-reviewed journals featuring Devyser products are testament to the scientific interest in their performance and impact. In this post, we’ll highlight several studies that were published in 2023 and their key findings.  

Devyser Thalassemia NGS  

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience – Ozalp, O. & Anlas, O. 

Our single-assay thalassemia solution, Devyser Thalassemia NGS, was used in the analysis of 914 patients at a site in Turkey. The study was the first next-generation sequencing (NGS) study for the diagnosis of hemoglobinopathies in Turkey. 14 novel variants were discovered during the study, representing the usefulness of having an NGS-based assay capable of detecting variants in the α-globin and β-globin genes simultaneously. The study also demonstrated the importance of assays capable of detecting rare variants in diverse populations. 

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Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience – Zulkeflee, R. H. et al.  

This study investigated the practicality and preciseness of using Devyser Thalassemia NGS as an NGS method for identifying additional pathogenic variants in 14 Malaysian patients with confirmed thalassemia. Devyser Thalassemia NGS identified -50 G>A mutations not observed in the reference method. The researchers concluded that compared to standard practice, targeted NGS testing for thalassemia had the ability to detect a wider range of mutations, and “would immensely facilitate diagnosis of thalassemia”.  

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Devyser CFTR NGS 

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort – De Paolis, E. et al.  

This study aimed at investigating the frequency and type of CFTR variants in a cohort of 770 healthy individuals from central and southern Italy, as well as the possible causes for any novel mutations observed. The study employed an extended gene sequencing technique using Devyser CFTR NGS to help provide clarity of the variant distribution based on geographic region. The assay facilitated the identification of at least one alternative CFTR allele in 23% of participants. The study concluded that “high-throughput sequencing approach supports an effective CFTR screening analysis and CF molecular diagnosis” and encouraged NGS adoption to enable improvements in CF diagnosis and treatment.  

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Devyser Accept cfDNA  

Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation – Pettersson, L. et al.  

Devyser Accept cfDNA, our novel NGS solution for monitoring dd-cfDNA, was the focus of a performance analysis study published in Clinica Chimica Acta. The assay achieved both a limit of detection and limit of quantification of 0.1%, meaning the assay had high sensitivity for dd-cfDNA from graft injury. Devyser Accept cfDNA was able to detect dd-cfDNA several days before the emergence of creatinine, a marker commonly used to detect transplant rejection. The study concluded that earlier detection, compared to standard monitoring methods, could allow physicians to instigate changes in treatment that could help prevent graft rejection, and therefore improve clinical outcomes for patients.  

Read here: 

Thank you to the scientific community for taking such an interest in our products and their potential to provide simple, fast, and accurate genetic testing solutions. We are so excited for all the studies that will be produced and published in 2024! 

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