AI-Driven Bioinformatics for Precision and Next-Generation Diagnostics

Dear Colleagues,

The Special Issue, entitled “AI-Driven Bioinformatics for Precision and Next-Generation Diagnostics”, will showcase cutting-edge research at the intersection of artificial intelligence (AI), bioinformatics, and advanced diagnostics. As biomedical data generation accelerates—driven by next-generation sequencing (NGS), high-throughput omics technologies, and digital health platforms—there is an urgent need for scalable, intelligent, and clinically actionable analytical frameworks.

This Special Issue invites original research articles and reviews on AI-driven methodologies, including machine learning, deep learning, foundation models, and federated learning, applied to complex biomedical datasets. Particular focus will be placed on NGS data analysis, encompassing variant detection and prioritization, transcriptomic profiling, single-cell and spatial omics, epigenomics, and integrative multi-omics approaches. Submissions addressing advanced computational pipelines and cloud-based and high-performance computing solutions for large-scale sequencing data are strongly encouraged.

Topics of interest include, but are not limited to, biomarker discovery, predictive modeling, early disease detection, patient stratification, digital pathology, radiomics, and AI-powered clinical decision support systems. Emphasis will also be placed on explainable and trustworthy AI, model generalizability, reproducibility, and real-world clinical validation. Emerging paradigms such as digital twins and data-centric AI are particularly welcome.

This Special Issue will foster interdisciplinary collaboration and accelerate the translation of AI-driven bioinformatics innovations into next-generation diagnostic applications and precision healthcare.

Prof. Dr. Costas Papaloukas
Guest Editor

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.