JOURNAL OF HUMAN GENETICS

Scope & Guideline

Transforming Discoveries into Solutions

Introduction

Welcome to the JOURNAL OF HUMAN GENETICS information hub, where our guidelines provide a wealth of knowledge about the journal’s focus and academic contributions. This page includes an extensive look at the aims and scope of JOURNAL OF HUMAN GENETICS, highlighting trending and emerging areas of study. We also examine declining topics to offer insight into academic interest shifts. Our curated list of highly cited topics and recent publications is part of our effort to guide scholars, using these guidelines to stay ahead in their research endeavors.
LanguageEnglish
ISSN1434-5161
PublisherSPRINGERNATURE
Support Open AccessNo
CountryUnited Kingdom
TypeJournal
Converge1961, 1996, from 1998 to 2024
AbbreviationJ HUM GENET / J. Hum. Genet.
Frequency12 issues/year
Time To First Decision-
Time To Acceptance-
Acceptance Rate-
Home Page-
AddressCAMPUS, 4 CRINAN ST, LONDON N1 9XW, ENGLAND

Aims and Scopes

The Journal of Human Genetics focuses on advancing the understanding of human genetics through comprehensive research that spans various methodologies and areas of study. Its primary aim is to disseminate significant findings that contribute to the field of genetic research, particularly in relation to human health and disease.
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
The Journal of Human Genetics is adapting to the evolving landscape of genetic research. Recent publications highlight several emerging themes that are gaining traction, reflecting the journal's responsiveness to contemporary scientific challenges and advancements.
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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

While the Journal of Human Genetics continues to thrive in many areas, some themes appear to be losing prominence over time. This may reflect shifts in research priorities or advancements in methodologies that make certain topics less relevant.
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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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