New Horizons in Human Genetics and Precision Medicine

Human genetics is undergoing rapid transformation. Advances in genome sequencing, population-scale biobanks, functional genomics, single-cell and spatial genomics, genome editing, and computational biology are expanding our ability to investigate human genetic variation and its biological consequences. These developments are also advancing precision medicine by improving disease classification, risk prediction, prevention, diagnosis, and treatment selection. At the same time, the scope of human genetics is extending beyond disease susceptibility to encompass human health, development, aging, longevity, learning, adaptation, and other dimensions of human potential. Research in these areas must remain scientifically rigorous and ethically responsible, particularly when addressing complex traits shaped by developmental, environmental, social, and cultural factors.This Research Topic, led by Dr. M. Geoffrey Hayes, Specialty Chief Editor of the Applied Genetic Epidemiology section, together with the Associate Editor of the section, Dr. Hui-Qi Qu of the Children’s Hospital of Philadelphia, and Dr. Xiaoming Liu of the University of South Florida, will highlight emerging discoveries, unresolved questions, analytical advances, and future directions in human genetics.We invite forward-looking contributions that describe the state of the art and identify the advances needed to move the field forward. We welcome submissions addressing the following sub-areas:• Long-read and whole-genome sequencing, human pangenome resources, and structural variation• Rare-disease genetics, population genetics, and the genetic architecture of complex human traits• Functional interpretation of coding and non-coding variants, regulatory genomics, and variant prioritization and classification• Single-cell and spatial genomics, multi-omics, and somatic mosaicism• Pharmacogenomics, polygenic prediction, and other emerging approaches in applied genetic epidemiology• Integration of genetic, genomic, clinical, environmental, and lifestyle data to advance precision medicine• Ethical, social, and responsible implementation considerations in human genetics and precision medicineWe particularly welcome studies that advance precision medicine through the integration of genetic, genomic, clinical, environmental, and lifestyle data for risk stratification, early detection, molecular diagnosis, disease subtyping, treatment selection, and prediction of therapeutic response.The goal of this collection is to highlight emerging frontiers in human genetics and identify the scientific questions, technologies, and ethical principles that will shape the field in the coming decade, from fundamental discovery to the responsible implementation of precision medicine. We welcome submissions of the following article types: Brief Research Report, Data Report, General Commentary, Hypothesis and Theory, Methods, Mini Review, Opinion, Original Research, Perspective, Review, Systematic Review, and Technology & Code.Dr. Liu is a co-founder of Genos Bioinformatics LLC (Texas, USA). All other Topic Editors declare no competing interests. Topic editors: Hui-Qi Qu, Xiaoming Liu, M. Geoffrey Hayes Source: https://www.frontiersin.org/research-topics/84755/new-horizons-in-human-genetics-and-precision-medicine