Special Issue

AI-Driven Functional Genomics and Variant Interpretation in Precision Medicine

Submission Deadline: April 30, 2027 (Open) Submit Now

Guest Editor

Co-Editor

About This Topic

Special Issue Overview

The rapid expansion of high-throughput genomic technologies has transformed our ability to identify genetic variation across diverse human populations. Despite this progress, a major challenge in precision medicine remains the accurate functional interpretation of genomic variants and their translation into clinically actionable knowledge.

This Special Issue, titled “AI-Driven Functional Genomics and Variant Interpretation in Precision Medicine”, aims to highlight state-of-the-art advances at the intersection of artificial intelligence, functional genomics, and translational medicine.

We particularly welcome studies that go beyond variant discovery to focus on:

• Functional characterization of genetic variants
• Mechanistic insights into disease biology
• Integration of multi-omics data
• Clinical translation of genomic findings

This Special Issue will provide a multidisciplinary platform bringing together researchers from bioinformatics, molecular biology, systems biology, and clinical genomics, with the ultimate goal of advancing AI-enabled precision medicine.

Scope and Topics of Interest

We invite high-quality submissions addressing (but not limited to) the following themes:

AI & Computational Genomics

• Machine learning and deep learning models for variant pathogenicity prediction
• AI-based functional annotation and prioritization of variants
• Natural language processing for genomic and biomedical knowledge extraction
• Clinical decision-support systems powered by genomic data

Functional Genomics

• Experimental validation of genetic variants (CRISPR, in vitro, in vivo models)
• Functional characterization of coding and non-coding variants
• Regulatory genomics and gene expression modulation
• Functional impact of rare and disease-associated variants

Multi-Omics Integration

• Integration of genomics, transcriptomics, proteomics, and metabolomics
• Systems biology and network-based modeling approaches
• Single-cell and spatial omics in variant interpretation

Translational and Clinical Genomics

• Pharmacogenomics and genotype-guided therapeutic strategies
• Biomarker discovery and patient stratification
• Clinical implementation of genomic medicine
• Precision diagnostics and prognostic modeling

Ethical, Legal, and Regulatory Aspects

• Uncertainty and interpretability in genomic variant classification
• Ethical implications of AI-driven genomic decision-making
• Data sharing, privacy, and regulatory challenges in precision medicine

Call for Papers

We invite researchers to submit Original Research Articles, Reviews, and Short Communications for this Special Issue on:

AI-Driven Functional Genomics and Variant Interpretation in Precision Medicine

This Special Issue focuses on innovative computational and experimental strategies that enhance the functional interpretation of genetic variation and its translation into clinical applications.

Submissions integrating AI methodologies, functional validation, multi-omics integration, and translational genomics are especially encouraged.

Keywords

Functional Genomics; Variant Interpretation; Artificial Intelligence in Genomics; Precision Medicine; Machine Learning; Pharmacogenomics; Multi-Omics Integration; Clinical Genomics

Manuscript Submission Information

Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.

Welcome your submission!