Results 41 to 50 of about 41,824,283 (165)
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts
Frontiers in Genetics, 2014 Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric ...
Bahram eNamjou +23 more
doaj +1 more source
Molecular Oncology, EarlyView.Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche +10 more
wiley +1 more source
FEBS Open Bio, EarlyView.NMR metabolomics revealed concentration‐dependent metabolic perturbations in HepG2 cells exposed to H2O2. Rifampicin pretreatment enhanced metabolic competence, attenuated toxin‐induced alterations and produced metabolite profiles more consistent with human liver physiology, supporting the use of CYP450‐induced HepG2 models for improved in vitro ...
Maren Jinks +4 more
wiley +1 more source
A multi-ancestry genome-wide association study of dry eye disease and systemic comorbidities
EBioMedicineSummary: Background: Dry eye disease (DED) affects up to 25% of the adult population, with chronic symptoms of pain and dryness often negatively impacting quality of life. Twin studies indicate a substantial heritability.
Bryan R. Gorman +35 more
doaj +1 more source
A Phenome Wide Association Study of Multiple Sclerosis and COmorbidities [PDF]
, 2017 Genome wide association studies (GWAS) have identified relationships between many different genes and diseases. GWAS studies scan whole genomes of many individuals and then associate genetic variants with diseases that the individuals have.
Davis, Mary, Frodsham, Scott
core
Charting Endocrine Progenitors Across Species and Organs
Advanced Science, EarlyView.Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing +21 more
wiley +1 more source
Biological Psychiatry Global Open ScienceComplex and common, substance use disorders (SUDs) are heterogeneous in presentation and difficult to treat. Moreover, SUDs are frequently comorbid with other psychiatric disorders and medical issues. While it is known that SUDs are moderately heritable,
Emily E. Hartwell, Rachel L. Kember
doaj +1 more source
Towards a Compositional Framework for Describing Human Phenotypes
Advanced Science, EarlyView.The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Wanting Hu +11 more
wiley +1 more source
BMC GenomicsBackground Type I hereditary hemochromatosis (HH), caused by pathogenic HFE variants, is among the most common autosomal recessive disorders in Northern Europe.
Miriam Nurm +8 more
doaj +1 more source
Advanced Science, EarlyView.MAPA transforms complex multi‐omics data into biologically coherent functional modules by integrating pathway information with molecular interaction networks. Retrieval‐augmented large language models then generate structured, literature‐informed interpretations.
Yifei Ge +13 more
wiley +1 more source