Emerging Technologies in Clinical Diagnostics: From Molecular Testing to Digital Pathology

A Special Issue of Diagnostics (ISSN 2075-4418) belonging to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 30 April 2027 | Viewed by 69

Editors


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Guest Editor
1. Department of Molecular Diagnostics, Seoul Clinical Laboratories, Yongin-si, Republic of Korea
2. SCL Healthcare Co., Ltd., Yongin-si, Republic of Korea
3. SCL Science Co., Ltd., Seoul, Republic of Korea
Interests: metabolic syndrome; biomarker discovery; deep learning; multi-omics; spatial biology; companion diagnostics; precision medicine; genomics/epigenomics; molecular testing; digital pathology

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Guest Editor
AI Research in Section of Surgical Sciences, Vanderbilt University, Nashville, TN 37232, USA
Interests: artificial intelligence; machine learning; spatial biology; single-cell analysis; digital pathology; biomarker discovery; spatial microbiome analysis; TIME; molecular diagnostics; whole-slide imaging (WSI); deep learning; multi-omics; companion diagnostics; precision medicine

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Guest Editor
Department of Bio and Brain Engineering, KAIST, Daejeon 34141, Republic of Korea
Interests: omics-based computational biology and medicine; genomics/epigenomics; systems genetics; systems epigenetics; machine learning; next-generation sequencing; cancer genomics; immunotherapy; neurogenomics; genome evolution

Special Issue Information

Dear Colleagues,

The convergence of molecular testing and digital pathology represents a defining shift in modern precision medicine. Molecular testing is a technique that analyzes a patient’s tissue or blood to detect specific DNA, RNA, or protein. By uncovering genetic mutations or cellular changes, it enables highly accurate diagnoses, personalized treatments, and early disease detection. Traditionally, tissue-based morphological assessment and molecular/ genomic analysis have operated as separate, sequential workflows. Advances in artificial intelligence (AI) and whole-slide imaging (WSI) are now unifying these domains into an integrated digital ecosystem. Digital pathology tools can optimize pre-analytical steps for molecular testing—automating tumor cellularity assessment, guiding microdissection, and mitigating quantity-not-sufficient (QNS) failures—while AI models trained on routine H&E images increasingly predict clinically relevant genomic alterations, offering faster, lower-cost pre-screening ahead of confirmatory molecular assays. Beyond diagnosis, multimodal integration of spatial morphology, genomics, transcriptomics, and proteomics is enabling more accurate prognostic and treatment-response prediction, while cloud-based digital infrastructure supports real-time telepathology and global expert consultation.

This Special Issue invites original research, reviews, and case studies exploring the technical, clinical, and translational aspects of this convergence, including AI-based image-to-genotype prediction, spatial multi-omics, companion diagnostics, workflow validation, and regulatory considerations. We welcome contributions from pathologists, molecular biologists, bioinformaticians, and diagnostic industry researchers advancing predictive, quantitative, and personalized diagnostics.

We look forward to receiving your contributions.

Dr. Kyoung-Ryul Lee
Prof. Dr. Tae Hyun Hwang
Prof. Dr. Jung Kyoon Choi
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 250 words) can be sent to the Editorial Office for assessment.

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-anonymized 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

  • digital pathology
  • molecular diagnostics
  • whole-slide imaging (WSI)
  • artificial intelligence
  • deep learning
  • multi-omics
  • spatial biology
  • companion diagnostics
  • precision medicine
  • telepathology

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Published Papers

This special issue is now open for submission.
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