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Human Genomics - 2025
21 articles | Last updated: 2025-12-03 14:12:57
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Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Genetic insights into cardiac conduction disorders from genome-wide association studies
Comprehensive bioinformatics analysis of selected germline variants of uncertain significance identified in a cohort of Sri Lankan hereditary breast cancer patients
Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece
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"European populations"; "European level"; "European countries"
Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers
Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells
Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues
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non-European genetic ancestries
Exploring the hepatic-ophthalmic axis through immune modulation and cellular dynamics in diabetic retinopathy and non-alcoholic fatty liver disease
Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2
Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates
Causal effects of education, intelligence, and income on COVID-19: evidence from a Mendelian randomization study
The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk
Proteome-wide Mendelian randomization identifies causal plasma proteins in prostate cancer development
The comprehensive potential of AQP1 as a tumor biomarker: evidence from kidney neoplasm cohorts, cell experiments and pan-cancer analysis
The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands
Data stewardship and curation practices in AI-based genomics and automated microscopy image analysis for high-throughput screening studies: promoting robust and ethical AI applications
Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays
Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China
A pan-cancer analysis of the oncogenic and immunological roles of RGS5 in clear cell renal cell carcinomas based on in vitro experiment validation
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing