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Comprehensive genomic and phenotypic analyses reveal the genetic basis of fruit quality in litchi
Published 2025-07-01“…We then analyze the population structure and reveal four main subgroups within the population. By phenotypic profiling of 21 fruit-quality-related traits, followed with genome-wide association study, we identify a plethora of candidate genes and genomic loci that are responsible for regulating seed and fruit quality traits. …”
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Association of new Life’s Essential 8 with biological aging among the national health and nutrition examination surveys
Published 2025-08-01“…Linear and logistic regression analyses were used to examine the association between the LE8 score and biological age. …”
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Potential role of SLC6A3 in neurodevelopmental impairments associated with corpus callosum abnormalities: insights from CNV analysis and clinical phenotyping
Published 2025-08-01“…We focused primarily on SLC6A3 associated mechanisms and aimed to delineate genotype-phenotype correlations in our cases. …”
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Unsupervised clustering of biochemical markers reveals health profiles associated with function and survival in active aging
Published 2025-08-01“…Abstract This study explores the relationships between biochemical phenotypes identified using machine learning, and key health outcomes, including body composition, physical function, and mortality risk. …”
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Genome-wide association and fine-mapping analyses identify novel candidate genes affecting serum cortisol levels using imputed whole-genome sequencing data in pigs
Published 2025-07-01“…We utilized imputed whole-genome sequencing data for our analyses. GWAS results revealed a genome-wide significant quantitative trait locus (q-value < 0.05) located within a ~2.46 Mb region between single nucleotide polymorphisms 7:114031215 and 7:116497417 on pig chromosome 7, which accounted for 12.65% of the phenotypic variation. …”
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Introducing the UK Crop Microbiome Cryobank data resource, AgMicrobiomeBase, with case studies and methods on metabarcoding analyses
Published 2025-08-01“…Results The focus of this paper is the amplicon sequencing, associated bioinformatics workflows, and development of the project data catalogue. …”
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An Explainable Multimodal Artificial Intelligence Model Integrating Histopathological Microenvironment and EHR Phenotypes for Germline Genetic Testing in Breast Cancer
Published 2025-08-01“…Mechanistic interpretability analyses revealed that BRCA1/2‐mutated associated tumors may exhibit distinct microenvironment patterns, including increased inflammatory cell infiltration, stromal proliferation and necrosis, and nuclear heterogeneity. …”
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Obesity induces phenotypic switching of gastric smooth muscle cells through the activation of the PPARD/PDK4/ANGPTL4 pathway
Published 2025-07-01“…Conclusions Obesity triggers a phenotypic change in gastric SMCs, driven by the activation of the PPARD/PDK4/ANGPTL4 pathway. …”
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Supplement-driven iron overload accelerates phenotypic aging via inflammatory biomarkers: Potential counteraction through anti-inflammatory or antioxidant diets
Published 2025-09-01“…Multivariable-adjusted analyses were performed using weighted generalized linear models (GLMs). …”
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White Matter Imaging Phenotypes Mediate the Negative Causality of Mitochondrial DNA Copy Number on Sleep Apnea: A Bidirectional Mendelian Randomization Study and Mediation Analysis
Published 2024-12-01“…Among 3935 BIPs, two features related to white matter microstructure served as partial mediators: the second eigenvalue from diffusion MRI data analysed by tract-based spatial statistics in the right posterior thalamic radiation, with a mediation proportion of 11.37% (P = 0.0450), and fractional anisotropy in the right sagittal stratum, with a mediation proportion of 12.79% (P = 0.0323).Conclusion: This study demonstrated a causal relationship between mtDNA-CN and SA, with specific brain white matter microstructure phenotypes potentially acting as mediators. …”
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DNA methylation patterns associated with prior tuberculosis infection in people with HIV
Published 2025-08-01“…DisGeNET analysis linked prior TB DNAm patterns to lymphoid leukemia, while dbGaP analysis identified associations with phenotypes like asthma, body mass index, tunica media, and lymphocyte count. …”
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Identification of RNA binding protein genes associated with colorectal cancer by bioinformatics analysis
Published 2025-08-01“…Analysis of the tumor microenvironment (TME) indicated that high-risk patients exhibited elevated stromal and immune scores, alongside reduced tumor purity, which is associated with more aggressive phenotypic characteristics. …”
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Dimensions of music use motivations: Genetic and environmental underpinnings, and associations with Big Five and Empathy traits.
Published 2025-01-01“…We also examined their phenotypic associations, as well as genetic and environmental overlap with general personality traits, including the Big Five and Trait Empathy facets. …”
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Prevalence of paediatric diarrhoea in Arba minch government health institutions, Southern Ethiopia and associated factors
Published 2025-08-01“…Descriptive and inferential statistical analyses were done using SPSS, and P-values ≤ 0.05 were considered statistically significant. …”
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