Insights in Human and Medical Genomics 2026

The past decade has delivered landmark advances in human and medical genomics that shape how we understand disease mechanisms, interpret genetic variation, and translate discoveries into clinical care. Over the last year, progress in population-scale datasets, functional genomics, and translational workflows has linked genome function to real-world health outcomes, while also addressing reproducibility, equity, governance, and clinical implementation.Frontiers is organizing a Research Topic within its “Insights” series to spotlight current developments and near-future directions across human and medical genomics. Led by Dr. Jared Roach and Dr. Maxim Freydin, Specialty Chief Editors of the Human and Medical Genomics section in Frontiers in Genetics, Insights in Human and Medical Genomics 2026 aims to capture the field’s momentum by showcasing research that connects human genetic variation to genome function, disease biology, and precision medicine.This Research Topic welcomes basic and translational studies in humans that advance population, functional, and translational genomics, with methodological rigor, reproducible approaches, and thoughtful functional interpretation. Contributions should go beyond association alone and, where relevant, demonstrate how genomic insights can move toward clinical utility, prevention, or therapeutic impact.To gather further insights into this rapidly developing field, we welcome articles addressing, but not limited to, the following themes:o Population and multi-ancestry genomics improving variant interpretation, risk prediction, and generalizability across diverse cohortso Functional genomics of human variation, including mechanistic work in relevant human cells/tissues, multi-omics integration, and perturbation-based approacheso Systems genomics and systems medicine, including network- and pathway-level models that connect genotype to phenotype and clinical endpointso Translational genomics and precision medicine, including evidence frameworks for clinical implementation, treatment response, and patient stratificationo Genomic technologies and analytical advances that strengthen robustness and reproducibility (e.g., improved study design, benchmarking, validation strategies)o AI and machine learning for genomic discovery and translation, with attention to interpretability, bias, and clinical readinessInsights garnered from genome-wide coupled to phenome-wide analyses. Submissions should reflect state-of-the-art research, highlight recent advances, and identify limits to progress, especially where overcoming challenges could change research practice or patient care. Topic editors: Jared C Roach, Maxim B Freidin Source: https://www.frontiersin.org/research-topics/77614/insights-in-human-and-medical-genomics-2026