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5.9
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Journals
Diagnostics
Special Issues
Challenges in Monitoring and Diagnosis in Medical Sciences
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Challenges in Monitoring and Diagnosis in Medical Sciences

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 867

Special Issue Editors

Prof. Dr. Mihaela Badea

E-Mail Website1 Website2
Guest Editor
1. Faculty of Medicine, Transilvania University of Brasov, 500019 Brașov, Romania
2. Research Center for Fundamental Research and Prevention Strategies in Medicine, Research and Development Institute of Transilvania University of Brasov, 500484 Brașov, Romania
Interests: (bio)analytical methods; biochemistry, electrochemical (bio)sensors; studies of the activity of bioactive compounds in cell cultures; (tele)monitoring-(tele)diagnosis in life sciences
Special Issues, Collections and Topics in MDPI journals
Dr. Laura Gaman

E-Mail Website
Guest Editor
Department of Biochemistry, University of Medicine and Pharmacy Carol Davila, 020021 Bucharest, Romania
Interests: pancreatic diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Monitoring and diagnosis in medical sciences require interdisciplinary medical skills, involving multidisciplinary teams. The process starts with specific signs and symptoms, and the recommendation of classic and modern lab tests and/or computer-assisted diagnostics. (Tele)diagnosis and (tele)monitoring are important for modern medicine to have continuous information about patient status and recovery progress. The current and future healthcare recommendations include medical approaches for personalized diagnosis and treatment of each patient.

This Special Issue aims to invite authors to present their challenging experiences in monitoring and diagnosis in medical sciences.

We invite the submission of original manuscripts dealing with the proposed topics, including but not limited to those presented in the frame of the 7th International Conference: New Trends on Sensing, Monitoring and Telediagnosis for Life Sciences (NT SMT-LS 2024) (https://healthfoodenviron.unitbv.ro/2024/), held in Brasov (hybrid form). You may send your manuscript at any point from now until the deadline.

We look forward to welcoming your contribution to this Special Issue.

Prof. Dr. Mihaela Badea
Dr. Laura Gaman
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • diagnostic
  • monitoring
  • medical sciences

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Published Papers (1 paper)

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15 pages, 600 KiB  
Review
Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders
by Efthalia Moustakli, Panagiotis Christopoulos, Anastasios Potiris, Athanasios Zikopoulos, Despoina Mavrogianni, Grigorios Karampas, Nikolaos Kathopoulis, Ismini Anagnostaki, Ekaterini Domali, Alexandros T. Tzallas, Peter Drakakis and Sofoklis Stavros
Diagnostics 2025, 15(14), 1803; https://doi.org/10.3390/diagnostics15141803 - 17 Jul 2025
Viewed by 204
Abstract
Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies, including Oxford Nanopore and Pacific Biosciences high-fidelity (HiFi), [...] Read more.
Rare genetic diseases are often caused by structural variants (SVs), such as insertions, deletions, duplications, inversions, and complex rearrangements. However, due to the technical limitations of short-read sequencing, these variants remain underdiagnosed. Long-read sequencing technologies, including Oxford Nanopore and Pacific Biosciences high-fidelity (HiFi), have recently advanced to the point that they can accurately find SVs throughout the genome, including in previously unreachable areas like repetitive sequences and segmental duplications. This study underscores the transformative role of long-read sequencing in diagnosing rare diseases, emphasizing the bioinformatics tools designed for detecting and interpreting structural variants (SVs). Comprehensive methods are reviewed, including methylation profiling, RNA-seq, phasing analysis, and long-read sequencing. The effectiveness and applications of well-known tools like Sniffles2, SVIM, and cuteSV are also assessed. Case studies illustrate how this technique has revealed new pathogenic pathways and solved cases that were previously undetected. Along with outlining potential future paths like telomere-to-telomere assemblies and pan-genome integration, we also address existing issues, including cost, clinical validation, and computational complexity. For uncommon genetic illnesses, long-read sequencing has the potential to completely change the molecular diagnostic picture as it approaches clinical adoption. Full article
(This article belongs to the Special Issue Challenges in Monitoring and Diagnosis in Medical Sciences)
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