Returning integrated genomic risk and clinical recommendations: the eMERGE study
10.1016/j.gim.2023.100006 · 2023
Making work visible for electronic phenotype implementation: lessons learned from the eMERGE network
10.1016/j.jbi.2019.103293 · 2019
Comparing ICD9-encoded diagnoses and NLP-processed discharge summaries for clinical trials pre-screening: a case study
2008
ICD-10 codes for APOL1-mediated kidney disease
10.1016/j.kint.2025.09.025 · 2026
Developing a FHIR-based EHR phenotyping framework: a case study for identification of patients with obesity and multiple comorbidities from discharge summaries
10.1016/j.jbi.2019.103310 · 2019
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability
10.1093/jamia/ocv202 · 2016
Characterizing workflow for pediatric asthma patients in emergency departments using electronic health records
10.1016/j.jbi.2015.08.018 · 2015
Severity prediction for COVID-19 patients via recurrent neural networks
2021
High prevalence of unlabeled chronic kidney disease among inpatients at a tertiary-care hospital
10.1097/maj.0b013e318181288e · 2009
Measuring diagnoses: ICD code accuracy
10.1111/j.1475-6773.2005.00444.x · 2005
Copy number variant analysis and genome-wide association study identify loci with large effect for vesicoureteral reflux
10.1681/asn.2020050681 · 2021
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
10.1126/science.aal4043 · 2018
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
10.1186/1471-2105-15-248 · 2014
HPO2Vec+: leveraging heterogeneous knowledge resources to enrich node embeddings for the human phenotype ontology
10.1016/j.jbi.2019.103246 · 2019
Online Mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders
10.1093/nar/gki033 · 2005
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
10.1016/j.ajhg.2008.09.017 · 2008
OMIM.org: leveraging knowledge across phenotype-gene relationships
10.1093/nar/gky1151 · 2019
Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes
10.1016/j.ajhg.2018.05.010 · 2018
Linking rare and common disease vocabularies by mapping between the human phenotype ontology and phecodes
10.1093/jamiaopen/ooad007 · 2023
Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records
10.1016/j.gim.2023.100921 · 2023
Mondo: integrating disease terminology across communities
10.1093/genetics/iyaf215 · 2026
Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies
10.1038/s41746-021-00488-3 · 2021
Polygenic risk alters the penetrance of monogenic kidney disease
10.1038/s41467-023-43878-9 · 2023
Medical records-based chronic kidney disease phenotype for clinical care and ‘big data’ observational and genetic studies
10.1038/s41746-021-00428-1 · 2021
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy
10.1038/s41588-023-01422-x · 2023
The eMERGE genotype set of 83,717 subjects imputed to ∼40 million variants genome wide and association with the herpes zoster medical record phenotype
2019
Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits
10.1038/s41467-022-34456-6 · 2022
Deep phenotyping: embracing complexity and temporality-towards scalability, portability, and interoperability
10.1016/j.jbi.2020.103433 · 2020
OHDSI standardized vocabularies - a large-scale centralized reference ontology for international data harmonization
10.1093/jamia/ocad247 · 2024
Effect of vocabulary mapping for conditions on phenotype cohorts
10.1093/jamia/ocy124 · 2018
Predicting disease-related phenotypes using an integrated phenotype similarity measurement based on HPO
10.1186/s12918-019-0697-8 · 2019
Adapting electronic health records-derived phenotypes to claims data: lessons learned in using limited clinical data for phenotyping
10.1016/j.jbi.2019.103363 · 2020
Coverage of rare disease names in standard terminologies and implications for patients, providers, and research
2014
Characterizing database granularity using SNOMED-CT hierarchy
2020
Mapping of UK Biobank clinical codes: challenges and possible solutions
10.1371/journal.pone.0275816 · 2022
The Human Phenotype Ontology in 2024: phenotypes around the world
10.1093/nar/gkad1005 · 2024
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
10.1093/bioinformatics/btq126 · 2010
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
10.1038/nbt.2749 · 2013
Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney-specific pathways
10.1016/j.kint.2020.01.027 · 2020
Genome-wide polygenic score to predict chronic kidney disease across ancestries
10.1038/s41591-022-01869-1 · 2022
