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Featured Article: Comprehensive characterization of putative genetic influences on plasma metabolome in a pediatric cohort

The human exposome is composed of small molecules originated from endogenous and exogenous sources. The interactions between genetic and environmental factors influence metabolite levels while the extent of genetic contributions to diverse metabolic pathways is not yet known. Integrative analysis of human metabolome characterized by high-resolution mass spectrometry with genome-wide genotyping was performed to measure the genetic contribution to blood metabolome in children. Overall, the metabolites with high narrow-sense heritability (h2) were enriched for amino acid and nucleic acid metabolism while carbohydrate and lipid concentrations showed low h2. Genotype-metabotype associations discovered in adults were successfully replicated in children, and novel associations were discovered. The developmental trajectory of a biological system is shaped by gene-environment interaction especially in early life. Therefore, continuous efforts on generating metabolomics data in diverse human tissue types across age groups are required to understand gene-environment interaction in human development and aging.


  1. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…


Personalized Nutrition and Healthy Living from a Genomic Perspective

Edited by: Anagnostis Argiriou and Giuseppe Novelli

Mapping the urban wastewater genome towards the understanding of human infectious disease

Edited by: Despo Fatta-Kassinos, Bernd M. Gawlik and Warish Ahmed


Exposome x Genome

Edited by: Xiaoming Shi and Nikolaos S. Thomaidis


Genetically Manipulated Animal Models for Human Disease

Edited by: Ying Chen, Won Yeong Kang, and Hassane Mchaourab

Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease

Edited by: Giuseppe Novelli and Juergen Reichardt

Artificial Intelligence and Genomics

Edited by: Kirill A. Veselkov, Takashi Gojobori, and David van Dijk


Public Health Genomics

Edited by: George Patronis and Hongyu Zhao


Ethics, Law, and Society in Human Genomics

Edited by: Ruth Chadwick


Translational Genomics

Edited by: Nick M. Makridakis

Exome Sequencing

Edited by: George Patrinos and Chee Seng Ku

HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Personalized Nutrition and Healthy Living from a Genomic Perspective

Guest Editors:
Anagnostis Argiriou, Institute of Applied Biosciences, Centre for Research and Technology Hellas

Giuseppe Novelli, Department of Biomedicine and Prevention, Tor Vergata University of Rome

Unhealthy diet has been attributed as an important risk factor for the development and progression of chronic non-communicable diseases such as obesity, diabetes and cancer. Personalized nutrition aims to enhance human health by tailoring dietary recommendations to individuals using lifestyle, genetic, phenotypic, medical, nutritional and other information.

Mapping the urban wastewater genome towards the understanding of human infectious disease

Guest Editors:
Despo Fatta-Kassinos, Department of Civil and Environmental Engineering, Nireas-International Water Research Center, University of Cyprus

Bernd M. Gawlik, European Commission, Joint Research Centre, Directorate D - Sustainable Resources

Warish Ahmed, CSIRO Environment, Commonwealth Scientific and Industrial Research Organisation

Wastewater surveillance falls within the broad category of environmental surveillance. It can assess the presence or quantity of a chemical or biological signal in a pooled sample of sewage, taken for example from the sewer network or a wastewater treatment plant, to obtain information on various aspects of public health and human behavior. We seek to create a collection of recent studies addressing various key questions in relation to mapping the wastewater genome towards the understanding of human infections disease.

Exposome x Genome

Guest Editors:
Xiaoming Shi, MD/PhD, Director of the National Institute of Environmental Health (NIEH), Chinese Center for Disease Control and Prevention (China CDC)
Nikolaos S. Thomaidis, Professor of Analytical Chemistry, Department of Chemistry, National & Kapodistrian University of Athens

Over the past several decades, genomic analyses (e.g., genome-wide association studies, genome-wide sequencing, functional genomics, epigenomics, and biochemical networks) have enabled unparalleled elucidation of genotype-phenotype associations, which greatly improve our understanding of the pathogenesis of human diseases.

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Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

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