Results 1 to 10 of about 27,998 (235)

Phenome connections [PDF]

open access: yesTrends in Genetics, 2008
Human phenomics is about to come of age with studies that systematically assess the overlap and relationships among all human genetic diseases. A recent study by Andrey Rzhetsky and colleagues illustrates the power of phenomics by revealing links between conditions that were thought to be distinct, suggesting that they share a genetic basis.
Oti, M.O., Huynen, M.A., Brunner, H.G.
openaire   +5 more sources

Phenome-wide association studies between SERINC2 and neuropsychiatric disorders

open access: yesFrontiers in Psychiatry
ObjectivesSERINC2 has been associated with alcoholism, bipolar disorder and autism, but the comparability and specificity issues of the findings remain unaddressed.
Cao Liping   +2 more
exaly   +3 more sources

The Influence of Sleep and Diet on Human Peripheral Immunity and Chronic Health Conditions [PDF]

open access: yesResearch
Exposures that disrupt the immune system can affect human health. This study aimed to understand immune variability influenced by exposures from the perspectives of systems biology and multiomics. We recruited 1,001 healthy participants and collected 183
Yiran Zhao   +27 more
doaj   +2 more sources

The extracellular matrix phenome across species

open access: yesMatrix Biology Plus, 2020
Extracellular matrices are essential for cellular and organismal function. Recent genome-wide and phenome-wide association studies started to reveal a broad spectrum of phenotypes associated with genetic variants.
Cyril Statzer, Collin Yves Ewald
exaly   +3 more sources

Phenomic Imaging

open access: yesPhenomics, 2023
AbstractHuman phenomics is defined as the comprehensive collection of observable phenotypes and characteristics influenced by a complex interplay among factors at multiple scales. These factors include genes, epigenetics at the microscopic level, organs, microbiome at the mesoscopic level, and diet and environmental exposures at the macroscopic level. “
Lizhen Lan   +13 more
openaire   +2 more sources

Unique Attributes of the Laurel Wilt Fungal Pathogen, Raffaelea lauricola, as Revealed by Metabolic Profiling

open access: yesPathogens, 2021
Raffaelea lauricola is the causative agent of laurel wilt, a devastating disease of lauraceous trees. R. lauricola is also an obligate nutritional symbiont of several ambrosia beetle species who act as vectors for the pathogen.
Ross Joseph   +3 more
doaj   +1 more source

Ibero-American Endometriosis Patient Phenome: Demographics, Obstetric-Gynecologic Traits, and Symptomatology

open access: yesFrontiers in Reproductive Health, 2021
Background: An international collaborative study was conducted to determine the demographic and clinical profiles of Hispanic/Latinx endometriosis patients from Latin America and Spain using the Minimal Clinical Questionnaire developed by the World ...
Idhaliz Flores-Caldera   +15 more
doaj   +1 more source

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease

open access: yesFrontiers in Immunology, 2022
BackgroundChronic granulomatous disease (CGD) is an inborn error of immunity (IEI), characterised by recurrent bacterial and fungal infections. It is inherited either in an X-linked (XL) or autosomal recessive (AR) mode.
Timothy Lok-Hin Chiu   +40 more
doaj   +1 more source

The Human Extracellular Matrix Diseasome Reveals Genotype–Phenotype Associations with Clinical Implications for Age-Related Diseases

open access: yesBiomedicines, 2023
The extracellular matrix (ECM) is earning an increasingly relevant role in many disease states and aging. The analysis of these disease states is possible with the GWAS and PheWAS methodologies, and through our analysis, we aimed to explore the ...
Cyril Statzer   +4 more
doaj   +1 more source

Proteogenomic characterization of cholangiocarcinoma

open access: yesHepatology, EarlyView., 2022
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng   +18 more
wiley   +1 more source

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