Results 211 to 220 of about 6,310 (247)
Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis. [PDF]
BMC GenomicsNurm M +8 more
europepmc +1 more source
High-throughput multimodal automated phenotyping (MAP) with application to PheWAS [PDF]
Journal of the American Medical Informatics Association: JAMIA, 2019 Objective Electronic health records (EHR) linked with biorepositories are a powerful platform for translational studies. A major bottleneck exists in the ability to phenotype patients accurately and efficiently. The objective of this study was to develop
Chuan Hong +2 more
exaly +5 more sources
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS
Annual Review of Biomedical Data Science, 2021 Electronic health records (EHRs) are a rich source of data for researchers, but extracting meaningful information out of this highly complex data source is challenging.
Lisa Bastarache
exaly +4 more sources
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A PheWAS Analysis of the Risks and Benefits of Growing Up on a Farm
Journal of AgromedicineObjective Growing up on a farm presents a health paradox, with increased risks of injuries but some purported benefits. This study estimated differences in the burden of medical comorbidities between youth who live versus do not live on farms.
Bryan Weichelt +2 more
exaly +4 more sources
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS [PDF]
American Journal of Human Genetics, 2017 The availability of electronic health record (EHR)-based phenotypes allows for genome-wide association analyses in thousands of traits, and has great potential to identify novel genetic variants associated with clinical phenotypes.
Rounak Dey +2 more
exaly +4 more sources
Phenome-wide association study (PheWAS) of colorectal cancer risk SNP effects on health outcomes in UK Biobank [PDF]
British Journal of Cancer, 2021 Background Associations between colorectal cancer (CRC) and other health outcomes have been reported, but these may be subject to biases, or due to limitations of observational studies.
Evropi Theodoratou +2 more
exaly +5 more sources
Detecting disease comorbidity based on SNP association on PheWAS scale
Computational Biology and ChemistryDisease comorbidity presents special challenges to disease diagnosis and treatments. Much effort has been made in understanding the genetic causes, tracing back to individual genes, gene-gene interactions, and even to specific single nucleotide ...
Li-Xian Chen, Li Liao
semanticscholar +2 more sources
A PheWAS Model of Autism Spectrum Disorder
2021 43rd Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC), 2021Children with Autism Spectrum Disorder (ASD) exhibit a wide diversity in type, number, and severity of social deficits as well as communicative and cognitive difficulties. It is a challenge to categorize the phenotypes of a particular ASD patient with their unique genetic variants.
John Matta +6 more
openaire +3 more sources
Brain, Behavior, and ImmunityBACKGROUND: C-reactive protein (CRP) is a moderately heritable marker of systemic inflammation that is associated with adverse physical and mental health outcomes.
Sara A Norton, David Aa Baranger
exaly +3 more sources