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Improved exome prioritization of disease genes through cross-species phenotype comparisonCapturing phenotypes for precision medicineThe Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and ChallengesUrinary proteomics and metabolomics studies to monitor bladder health and urological diseasesThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesFeasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Global analysis of the human pathophenotypic similarity gene network merges disease module componentsInteroperability between phenotypes in research and healthcare terminologies--Investigating partial mappings between HPO and SNOMED CTValidation and enhancement of a computable medication indication resource (MEDI) using a large practice-based datasetDevelopment and evaluation of an ensemble resource linking medications to their indicationsNetwork biology concepts in complex disease comorbiditiesHeart Failure in Pediatric Patients With Congenital Heart Disease.Phenotype ontologies and cross-species analysis for translational researchPromoting Precision Cancer Medicine through a Community-Driven Knowledgebase.EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working GroupPHENOstruct: Prediction of human phenotype ontology terms using heterogeneous data sourcesClinical Research Informatics for Big Data and Precision Medicine.Semantic prioritization of novel causative genomic variantsDiscriminative and Distinct Phenotyping by Constrained Tensor Factorization.Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Birth defects registries in the genomics era: challenges and opportunities for developing countries.Next-generation diagnostics and disease-gene discovery with the ExomiserNeural substrates of trait ruminations in depression.Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomePhenUMA: a tool for integrating the biomedical relationships among genes and diseases.Genetics of the dentofacial variation in human malocclusionGene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Nonalcoholic steatohepatitis in precision medicine: Unraveling the factors that contribute to individual variability.Localized population divergence of vervet monkeys (Chlorocebus spp.) in South Africa: Evidence from mtDNA.Candidate Gene Analyses of Skeletal Variation in Malocclusion.Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and diseaseAn information model for computable cancer phenotypes.Precision wildlife medicine: applications of the human-centred precision medicine revolution to species conservation.Integrative Biology of Diabetic Kidney DiseaseCombining billing codes, clinical notes, and medications from electronic health records provides superior phenotyping performanceTowards Evidence-based Precision Medicine: Extracting Population Information from Biomedical Text using Binary Classifiers and Syntactic Patterns.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Deep phenotyping for precision medicine.
@en
type
label
Deep phenotyping for precision medicine.
@en
prefLabel
Deep phenotyping for precision medicine.
@en
P2860
P356
P1433
P1476
Deep phenotyping for precision medicine.
@en
P2860
P304
P356
10.1002/HUMU.22080
P577
2012-05-01T00:00:00Z