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Human Genomics
Scopus
ISSN 1479-7364 · BMC · 1,169 articles in the index
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Journal Article
APM⁺ macrophages associated with plaque vulnerability via MIF–CD74 signaling: a multi-omics study
Abstract Background Atherosclerosis (AS) is a chronic vascular disease and the principal cause leading to ischemic cardiomyopathy (ICM). It involves complex metabolic dysregulation beyond the resolution of single-omics. Emerging evidence implicates arginine-proline metabolism (APM) in driving…
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Journal Article
Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON)
Abstract While genome-wide association studies (GWAS) have linked common genetic variants to COVID-19 susceptibility and severity, rare high-impact variants may also contribute to phenotypic heterogeneity. Inborn errors of type I interferon immunity (IFN-I-IEIs), including X-linked TLR7 deficiency…
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Journal Article
Challenges in functional validation and mechanistic interpretation of a novel LACC1 variant in familial juvenile arthritis
Abstract In their recent publication, Alblooshi et al. report the identification and preliminary functional analysis of a novel LACC1 variant, p.Asp220Asn, associated with familial juvenile idiopathic arthritis. While their study provides a valuable genetic association, this letter offers a…
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Journal Article
Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier–Gorlin syndrome-7 using whole exome sequencing
Abstract Background Meier–Gorlin syndrome-7 (MGORS7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in the CDC45 gene. This study aims to present two rare CDC45 gene variants and a familial 13q31.1q31.3 microduplication in a fetus with multiple…
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Journal Article
Integrating genomic and exposomic data identifies endocrine disruptors potentially associated with chronic obstructive pulmonary disease
Abstract Background Chronic obstructive pulmonary disease (COPD) is a complex disorder driven by both genetic susceptibility and environmental exposures. Endocrine-disrupting chemicals (EDCs) are widespread environmental contaminants that interfere with hormonal and immune pathways, yet their…
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Journal Article
Elucidating the genetic landscape of inherited retinal disorders in India
Abstract Background Inherited retinal diseases (IRDs) are highly diverse and rare genetic disorders causing mild to complete vision loss across different age groups, with a notably higher disease burden in India. Although genetic testing has improved diagnostic accuracy, India’s distinct genetic…
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Journal Article
Molecular mechanisms and therapeutic strategies for the recurrent F9 (c.520 + 13 A > G) variant in hemophilia B
Abstract Background Hemophilia B (HB), an X-linked recessive disorder, results from variants in the coagulation factor IX gene (F9). The F9 c.520 + 13 A > G variant is a recurrent intronic variant in HB patients, accounting for 15.05% of all documented F9 intronic variants. Despite prior…
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Journal Article
Epimutation analysis reveals involvement of SLIT2/ROBO signaling pathway in painful diabetic neuropathy
Abstract Changes in gene function or expression caused by epigenetic modifications may play a role in painful diabetic neuropathy. Two independent cohorts of patients deeply phenotyped for painful diabetic neuropathy underwent whole genome DNA methylation data analysis. Burden of rare site events…
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Journal Article
Naming the alpha-2-macroglobulin gene family across vertebrates
Abstract The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes and its sister project, the Vertebrate Gene Nomenclature Committee (VGNC), names genes across selected vertebrates (chimp, macaque, horse, cattle, pig, dog, cat) in line with their human orthologs…
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Journal Article
DNA methylation analysis of the epigenome in oral squamous cell carcinoma
Abstract Background Oral squamous cell carcinoma (OSCC) is one of the most common oral malignancies, which can occur in any part of the mouth and is highly malignant. DNA Methylation is an epigenetic modification of the genome, which is involved in key cellular processes and has a crucial impact on…
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Journal Article
The global burden of ischemic heart disease attributable to trans fatty acid in 204 countries and territories, 1990–2023: a systematic analysis for the Global Burden of Disease Study 2023
Abstract Purpose Ischemic heart disease (IHD) remains the leading global cause of mortality. This study aims to quantify the spatiotemporal trends, socioeconomic disparities, and future burden of trans fatty acid (TFA)-attributabfle IHD from 1990 to 2023. Methods Using Global Burden of Disease…
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Journal Article
A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease
Abstract Background Patients with congenital heart disease are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease (CHD) population. In the…
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Journal Article
Unlocking Ethiopia’s genomic landscape and its global significance: a call for inclusive genomics research
Abstract Ethiopia, located at the intersection of Africa and Eurasia, is a hub of human genetic diversity and cultural richness. Its proximity to the Middle East has historically positioned it as a vital trade corridor connecting Asia, Europe, and Africa. Located along both the “out of Africa” and…
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Journal Article
Integrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems
Abstract Newborn screening (NBS) is a critical public health initiative aimed at the early detection of congenital disorders. The emergence of next-generation sequencing (NGS) holds the potential to expand the spectrum of diseases detectable at birth. To evaluate the feasibility of integrating NGS…
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Journal Article
Charting exposomethics: a roadmap for the ethical foundations of the human exposome project
Abstract Background The Human Exposome Project (HEP) aims to chart lifelong environmental exposures and their biological consequences, furnishing the environmental counterpart to the genomic revolution. Yet the fine‑grained, multimodal data streams that fuel exposomics—biospecimens, geolocation…
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Journal Article
Exploration of neutrophil-associated genes in the prognosis of bladder urothelial carcinoma based on a machine learning and multi-omics data integration framework
Abstract Background Bladder urothelial carcinoma (BLCA) is a prevalent malignancy. The poor performance of existing therapeutic approaches in the advanced stages of BLCA underscores the critical need for more sensitive and precise biomarkers to improve patient survival and prognosis. Methods This…
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Journal Article
Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants
Abstract Background Microtubule and actin crosslinking factor 1 (MACF1) plays a critical role in cytoskeletal regulation. Pathogenic variants in MACF1 are associated with a heterogeneous range of phenotypes, including epilepsy, intellectual disability, developmental delay, brain malformations, and…
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Journal Article
Harnessing phytochemicals for engineering health solutions
Abstract The interaction between the genome and the exposome is increasingly recognized as central to human health and disease. While exposome research has generally focused on adverse exposures such as pollutants and toxins, the concept of the beneficial exposome—positive environmental exposures…
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