This Research Topic is part of the Methods in Genetics series. Other titles in this series are:
Methods in Genomic Assay Technology 2022Methods in Neurogenomics 2022Methods in Evolutionary and Population Genetics 2022Please submit your article to the Research Topic that best suits the focus of your research.
The science of genetic epidemiology has been accelerated in recent years thanks to the advances of new technologies and methodologies which have paved the way for the discovery of promising new therapies. The development of genetic epidemiology methods and tools has transformed the way in which scientists discover and interpret the genotype-phenotype association, enabling a better understanding of human disease biology. These new discoveries have profound effects on drug target prioritization and precision medicine. The development of both statistical methodologies and empirical methods has been crucial and essential for the success of this endeavor, enabling the potential of pinpointing causal genes/risk factors for diseases/traits and allowing a more rapid and direct approach to performing analysis of entire genomes efficiently.
Despite the huge effort made in the genetic epidemiology field, there is still much work remaining to be done, for example, to enhance the study of human genetics in a diverse ancestral population. Studies of people of diverse ancestral backgrounds can reveal the genetic differences in disease susceptibility, drug responses, and polygenic risk score profiles at a population level. More broadly, developing and validating treatments for genetic diseases has been challenging especially in the sense of identifying the targeted drugs.
This series aims to highlight the latest experimental techniques and methods used to investigate fundamental questions in genetic epidemiology research from genetics association studies to polygenic risk score applications. The Research Topic welcomes Methods, Protocols, Perspectives, General Commentaries, Reviews, and Mini Review articles exploring and proposing future developments in Applied Genetic Epidemiology research with the following specific themes:
1. Genetics association study (new methods, new study)
2. Studies based on Artificial Intelligence tools.
- a. Review of the application of modern AI tools
- b. Future directions
3. Precision medicine using genetics/genomics technology and Artificial Intelligence.
- a. Patient subtyping
- b. Reverse GWAS
- c. Endotyping
4. Rare variants gene-based methods in whole genome/exome sequencing studies
5. Imputation methods and application for common and rare variants
6. Causal inference methods and novel applications
- a. Genetically informed methods for causal inference
- b. Graphical analysis and methodologies
7. Variant function annotation strategy
- a. Locus to gene methods
- b. Gene to function
- c. Integration of biological and chemical interaction data (chromatin interactions, PPIs)
8. Polygenic risk score application and risk prediction in diverse ancestral populations
The contributions to this collection will undergo peer-review. Novelty may vary, but the utility of a method or protocol must be evident. We welcome contributions covering all aspects of Applied Genetic Epidemiology. Submissions will be handled by the team of Topic Editors in the respective sections.