Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.
Featured Article: 1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants
The prevalence and genetic spectrum of cardiac channelopathies exhibit population-specific differences. In this article, the authors used the IndiGenomes dataset to explore the spectrum of cardiac channelopathy-associated variations in India, which is characterized by a genetically diverse population and is largely understudied in the context of these disorders. The results indicate that the genotype may be present in nearly 1% of the population of India, which represents a large number of people and a potential public health concern.
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The integration of large-scale public data and network analysis uncovers molecular characteristics of psoriasis
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Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility
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Increased risk of COVID-19 mortality rate in IFITM3 rs6598045 G allele carriers infected by SARS-CoV-2 delta variant
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The importance of being the HGNC
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The X chromosome and sex-specific effects in infectious disease susceptibility
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Ernst Wit and John McClure John Wiley & Sons Ltd, Chichester, UK, 2004
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Human genome meeting 2016
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Next-generation sequencing in liquid biopsy: cancer screening and early detection
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Intragraft transcriptional profiling of renal transplant patients with tubular dysfunction reveals mechanisms underlying graft injury and recovery
HGNC updates
From the Blog
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.
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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