EUROPEAN JOURNAL OF HUMAN GENETICS

Scope & Guideline

Leading the Charge in Clinical Genetics Insights

Introduction

Welcome to your portal for understanding EUROPEAN JOURNAL OF HUMAN GENETICS, featuring guidelines for its aims and scope. Our guidelines cover trending and emerging topics, identifying the forefront of research. Additionally, we track declining topics, offering insights into areas experiencing reduced scholarly attention. Key highlights include highly cited topics and recently published papers, curated within these guidelines to assist you in navigating influential academic dialogues.
LanguageEnglish
ISSN1018-4813
PublisherSPRINGERNATURE
Support Open AccessNo
CountryUnited Kingdom
TypeJournal
Convergefrom 1993 to 2024
AbbreviationEUR J HUM GENET / Eur. 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 European Journal of Human Genetics (EJHG) is dedicated to advancing the understanding of human genetics through the dissemination of high-quality research. Its main aims and scopes encompass a broad range of topics within the field of human genetics, emphasizing the importance of both basic and applied research in genetic disorders, population genetics, and genomic medicine.
  1. Genetic Disorders and Syndromes:
    The journal publishes studies on the genetic basis of various disorders and syndromes, including rare diseases, neurodevelopmental disorders, and hereditary conditions, emphasizing the identification of novel genetic variants and their clinical implications.
  2. Population Genetics and Epidemiology:
    Research focusing on the genetic epidemiology of diseases, including studies on population-specific genetic variants, risk factors, and the influence of genetics on disease prevalence across different populations.
  3. Genomic Medicine and Precision Health:
    EJHG highlights advancements in genomic medicine, including the application of whole genome sequencing, exome sequencing, and the development of genetic testing strategies for better diagnosis, treatment, and prevention of diseases.
  4. Ethical, Legal, and Social Implications (ELSI):
    The journal addresses the ethical, legal, and social considerations surrounding genetic testing, data sharing, and the implications of genetic research for individuals and communities.
  5. Innovative Technologies and Methodologies:
    EJHG promotes research that employs cutting-edge technologies such as CRISPR, long-read sequencing, and bioinformatics tools for genetic analysis, providing insights into the mechanisms of genetic disorders.
The European Journal of Human Genetics has observed several emerging trends that reflect the evolving landscape of genetic research. These trends indicate a shift towards more integrated, technology-driven, and patient-centered approaches in the field.
  1. Integration of Multi-Omics Approaches:
    There is a growing emphasis on multi-omics approaches that combine genomics, transcriptomics, proteomics, and metabolomics to provide a comprehensive understanding of complex diseases and their underlying biological mechanisms.
  2. Focus on Health Disparities and Population Diversity:
    Research exploring genetic health disparities and the genetic diversity of underrepresented populations is gaining momentum, highlighting the need for inclusive research practices that account for genetic variation across different ethnic groups.
  3. Ethical Considerations in Genetic Research:
    The discourse around the ethical implications of genetic research, including consent, data privacy, and the impact of genomic findings on individuals and families, is becoming increasingly prominent, reflecting societal concerns regarding genetic technologies.
  4. Application of Artificial Intelligence in Genetics:
    The use of AI and machine learning tools for variant interpretation, predictive modeling, and personalized medicine is emerging as a significant trend, providing new avenues for enhancing genetic diagnostics and treatment strategies.
  5. Neurodevelopmental and Psychiatric Genetics:
    Research focusing on the genetic basis of neurodevelopmental and psychiatric disorders is expanding, with increased interest in understanding the genetic architecture and environmental interactions influencing these conditions.

Declining or Waning

While the European Journal of Human Genetics has maintained a robust focus on various genetic topics, some areas appear to be declining in prominence over recent years. These waning themes indicate shifts in research priorities and emerging interests within the field.
  1. Basic Genetic Mechanisms:
    There has been a noticeable decline in publications focused solely on basic genetic mechanisms without direct clinical applications, as the field shifts towards more translational research that connects genetic findings with clinical outcomes.
  2. Single-gene Disorders:
    Research specifically centered on single-gene disorders seems to be diminishing in favor of studies addressing complex interactions and polygenic influences on diseases, reflecting a broader interest in multifactorial conditions.
  3. Traditional Cytogenetic Techniques:
    The reliance on traditional cytogenetic techniques such as karyotyping is decreasing, as newer technologies like next-generation sequencing and optical genome mapping gain traction for their enhanced diagnostic capabilities.

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