Research on Genetics and Genomics of Complex Traits in Human

Dear Colleagues,

This Special Issue will focus on AI-enabled inference of the biological mechanisms underlying genetic disorders. We seek studies that move beyond statistical association toward causal, mechanistic explanation by integrating genomic sequence, regulatory genomics, transcriptomic, epigenomic, proteomic, metabolomic, imaging, perturbation, clinical, phenotypic, and literature-derived evidence. Of particular interest are multi-agent and multi-model AI systems that generate, challenge, refine, and prioritize mechanistic hypotheses across biological scales, linking genetic variation to molecular function, pathways, cellular states, tissues, and disease phenotypes. Contributions may include mechanism-constrained, biology-informed, or physics-informed AI; knowledge graphs and graph reasoning; foundation models; causal inference; multimodal representation learning; autonomous hypothesis-generation or experimental-design systems; agentic hypothesis generation and adjudication; noncoding and structural variant interpretation; and VUS reclassification. The goal is not merely to predict disease risk, but to infer why a variant or molecular perturbation produces a phenotype, to identify missing evidence, to distinguish competing explanations, and to generate experimentally testable models of disease mechanism that can accelerate biological discovery and therapeutic development with transparent uncertainty estimates.

Dr. Gerald A. Higgins
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. Genes is an international peer-reviewed open access monthly 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.