Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause New York, N. Dysregulation of innate and adaptive serum mediators precedes systemic lupus erythematosus classification and improves prognostic accuracy of autoantibodies.
Journal of autoimmunity. Transcription factor ETV1 is essential for rapid conduction in the heart. The Journal of clinical investigation. User-centered design of multi-gene sequencing panel reports for clinicians. International journal of pediatrics. Polymorphisms in PDLIM5 gene are associated with alcohol dependence, type 2 diabetes, and hypertension. Journal of psychiatric research. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.
Multidisciplinary model to implement pharmacogenomics at the point of care. Practical considerations for implementing genomic information resources. Applied clinical informatics. Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. American journal of respiratory and critical care medicine. Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Health communication.
Validation of a metabolite panel for early diagnosis of type 2 diabetes. Metabolism: clinical and experimental. Clinical phenotyping in selected national networks: demonstrating the need for high-throughput, portable, and computational methods. Artificial intelligence in medicine.
Individuals, family, and population
Evaluating electronic health record data sources and algorithmic approaches to identify hypertensive individuals. JAMA cardiology. Journal of the American Heart Association. Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution. Journal of Alzheimer's disease : JAD. Phenome-wide association study maps new diseases to the human major histocompatibility complex region. Identification of genetic interaction networks via an evolutionary algorithm evolved Bayesian network.
Annual review of genomics and human genetics. Identifying genetically driven clinical phenotypes using linear mixed models. Altered type II interferon precedes autoantibody accrual and elevated type I interferon activity prior to systemic lupus erythematosus classification. Annals of the rheumatic diseases.
Are genetic tests informative in predicting food allergy? Current opinion in allergy and clinical immunology. International journal of biomedical data mining. Assessment of the genetic variance of late-onset Alzheimer's disease.
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- Genotype-Phenotype Disturbances of Some Biomarkers in Colorectal Cancer.
Optimizing annotation resources for natural language de-identification via a game theoretic framework. Preserving temporal relations in clinical data while maintaining privacy.
Human genotype–phenotype databases: aims, challenges and opportunities
Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. BMC medical genetics. Advances in chronic kidney disease. The phenotypic legacy of admixture between modern humans and Neandertals. Generating a taxonomy for genetic conditions relevant to reproductive planning. American journal of medical genetics. Part A. Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.
BMC musculoskeletal disorders. The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. Gastrointestinal endoscopy. Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium.
A multi-locus genetic risk score for abdominal aortic aneurysm. ABCC3 genetic variants are associated with postoperative morphine-induced respiratory depression and morphine pharmacokinetics in children.
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High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. Machine learning derived risk prediction of anorexia nervosa. Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry.
Contemporary clinical trials. CMTR1 is associated with increased asthma exacerbations in patients taking inhaled corticosteroids.
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- Traits, their genetic basis, and manifestations.
Immunity, inflammation and disease. Pasquale LR.
Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas
Vascular and autonomic dysregulation in primary open-angle glaucoma. Current opinion in ophthalmology. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival. The Journal of thoracic and cardiovascular surgery. Physician response to implementation of genotype-tailored antiplatelet therapy. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Posterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity. Integrating electronic health record genotype and phenotype datasets to transform patient care.
Privacy in the Genomic Era. ACM computing surveys. A prognostic model based on readily available clinical data enriched a pre-emptive pharmacogenetic testing program. Journal of clinical epidemiology. Journal of pathology informatics. A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States.