JOURNAL OF HUMAN GENETICS
Scope & Guideline
Transforming Discoveries into Solutions
Introduction
Aims and Scopes
- Genetic Mechanisms and Disease Associations:
The journal emphasizes research that uncovers the genetic underpinnings of various diseases, including neurodevelopmental disorders, cancers, and metabolic conditions, often through large-scale genomic studies. - Technological Innovations in Genomics:
It showcases advancements in genomic technologies, such as CRISPR, long-read sequencing, and machine learning applications, which enhance the precision and efficiency of genetic research. - Population Genetics and Diversity:
A significant focus is on the genetic diversity within human populations, including studies on ancestry, migration, and the impact of genetic variation on health outcomes across different ethnic groups. - Clinical Applications of Genetic Research:
The journal aims to bridge the gap between research and clinical practice, providing insights into how genetic findings can inform diagnostics, treatment strategies, and public health initiatives. - Ethical, Legal, and Social Implications of Genomics:
Research discussing the ethical considerations and societal impacts of genetic research and testing is also a core area, reflecting the journal's commitment to responsible science.
Trending and Emerging
- Polygenic Risk Scores and Complex Traits:
There is an increasing focus on the development and application of polygenic risk scores to understand complex traits and diseases, addressing how genetic predisposition interacts with environmental factors. - Machine Learning and AI in Genomics:
The integration of artificial intelligence and machine learning techniques in genetic research is rapidly trending, enhancing the analysis of large genomic datasets and improving predictive models for various health conditions. - Gene-Environment Interactions:
Research exploring the interplay between genetic predispositions and environmental influences is becoming more prominent, reflecting a holistic approach to understanding human health. - Ethics and Equity in Genomic Research:
Emerging themes include discussions on the ethics of genomics and the importance of ensuring equity in genetic research and its applications, particularly in diverse populations. - Functional Genomics and Disease Mechanisms:
There is a growing emphasis on functional genomics to elucidate the mechanisms by which genetic variants contribute to disease, moving beyond association studies to understand biological pathways.
Declining or Waning
- Focus on Rare Genetic Disorders:
There has been a noticeable decline in studies exclusively dedicated to rare genetic disorders as more research shifts towards broader genetic mechanisms and population-based studies. - Traditional Genetic Mapping Techniques:
Research utilizing older, less sophisticated genetic mapping techniques is becoming less frequent, as newer methodologies provide more accurate and comprehensive insights into genetic architecture. - Single-Gene Disease Studies:
The prevalence of studies focusing solely on single-gene disorders has decreased, possibly due to a growing interest in polygenic risk factors and interactions that complicate disease etiology. - Static Models of Genetic Risk Assessment:
There is a waning interest in static models for genetic risk assessment, with a shift towards dynamic, multi-dimensional approaches that consider environmental and lifestyle factors. - Non-Integrated Approaches to Genomic Data:
The journal has seen fewer publications that do not integrate multi-omic data (genomic, transcriptomic, proteomic), reflecting a move towards more holistic research frameworks.
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