FAIRsharing.1jwkjn; Last edited: Jan. 8, 2019, 1:22 p.m.; Last accessed: Jan 03 2022 7:06 p.m.

Other names: eMERGE

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eMERGE is a national network organized and funded by the National Human Genome Research Institute (NHGRI) that combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine.

Webpage:

https://emerge.mc.vanderbilt.edu/

Publications:

Publications
More detailed information about this field from each metasource.

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies
PMID: 21269473
metasource: Fairsharing.org
version: FAIRsharing.org: eMERGE; Electronic Medical Records and Genomics; DOI: https://doi.org/10.25504/FAIRsharing.1jwkjn; Last edited: Jan. 8, 2019, 1:22 p.m.; Last accessed: Jan 03 2022 7:06 p.m.

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
PMID: 23743551
metasource: Fairsharing.org
version: FAIRsharing.org: eMERGE; Electronic Medical Records and Genomics; DOI: https://doi.org/10.25504/FAIRsharing.1jwkjn; Last edited: Jan. 8, 2019, 1:22 p.m.; Last accessed: Jan 03 2022 7:06 p.m.

The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies PubMed citations: 415.

415 articles citing: The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies

Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis. PMID:35760791
The U.S. National Library of Medicine's impact on precision and genomic medicine. PMID:35600119
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. PMID:35590255
Initial Validation of a Machine Learning-Derived Prognostic Test (KidneyIntelX) Integrating Biomarkers and Electronic Health Record Data To Predict Longitudinal Kidney Outcomes. PMID:35372952
A Precision Medicine Agenda in Traumatic Brain Injury. PMID:35370671
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. PMID:35321655
Development and Evaluation of an Automated Approach to Detect Weight Abnormalities in Pediatric Weight Charts. PMID:35308946
Creating a Home for Genomic Data in the Electronic Health Record. PMID:35308907
Ascertainment of Delirium Status Using Natural Language Processing From Electronic Health Records. PMID:35239951
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. PMID:35090449
Development of a repository of computable phenotype definitions using the clinical quality language. PMID:34926996
The Mass General Brigham Biobank Portal: an i2b2-based data repository linking disparate and high-dimensional patient data to support multimodal analytics. PMID:34849976
Clinical utility of polygenic risk scores for coronary artery disease. PMID:34811547
Design and user experience testing of a polygenic score report: a qualitative study of prospective users. PMID:34598685
Development of preclinical and clinical models for immune-related adverse events following checkpoint immunotherapy: a perspective from SITC and AACR. PMID:34479924
Using Phecodes for Research with the Electronic Health Record: From PheWAS to PheRS. PMID:34465180
The role of machine learning in clinical research: transforming the future of evidence generation. PMID:34399832
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry. PMID:34347061
Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies. PMID:34302027
Associations of Genetically Predicted Lp(a) (Lipoprotein [a]) Levels With Cardiovascular Traits in Individuals of European and African Ancestry. PMID:34282949
A novel transcriptional risk score for risk prediction of complex human diseases. PMID:34245595
Citizen engagement initiatives in precision health in the European Union member states: a scoping review. PMID:34244258
A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. PMID:34097045
Novel EDGE encoding method enhances ability to identify genetic interactions. PMID:34086673
The Role of Electronic Health Records in Advancing Genomic Medicine. PMID:34038146
CREATE: A New Data Resource to Support Cardiac Precision Health. PMID:34036259
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:34001247
Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. PMID:33977795
Weight-Based Framework for Predictive Modeling of Multiple Databases With Noniterative Communication Without Data Sharing: Privacy-Protecting Analytic Method for Multi-Institutional Studies. PMID:33818396
A knowledge base of clinical trial eligibility criteria. PMID:33813032
Meeting the challenge: Health information technology's essential role in achieving precision medicine. PMID:33749793
Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation. PMID:33683212
Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study. PMID:33603197
Deep-learning-assisted analysis of echocardiographic videos improves predictions of all-cause mortality. PMID:33558735
Electronic Medical Record-Based Case Phenotyping for the Charlson Conditions: Scoping Review. PMID:33522976
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics. PMID:33420026
The influence of evolutionary history on human health and disease. PMID:33408383
An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility. PMID:33398303
High-throughput phenotyping with temporal sequences. PMID:33313899
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations. PMID:33312764
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks. PMID:33279681
Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition. PMID:33248520
Genome-wide association study identifies a role for the progesterone receptor in benign prostatic hyperplasia risk. PMID:33219367
LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks. PMID:33175840
Rapid response to the alpha-1 adrenergic agent phenylephrine in the perioperative period is impacted by genomics and ancestry. PMID:33168928
Toward cross-platform electronic health record-driven phenotyping using Clinical Quality Language. PMID:33083538
Tailoring Therapy for Children With Neuroblastoma on the Basis of Risk Group Classification: Past, Present, and Future. PMID:33058692
PheWAS-ME: a web-app for interactive exploration of multimorbidity patterns in PheWAS. PMID:33051675
These Are the Genes You're Looking For: Finding Host Resistance Genes. PMID:33004258
Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program. PMID:32981348
Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. PMID:32964493
Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. PMID:32952152
Optimizing identification of resistant hypertension: Computable phenotype development and validation. PMID:32844549
Relationship between genetic knowledge and familial communication of CRC risk and intent to communicate CRCP genetic information: insights from FamilyTalk eMERGE III. PMID:32579152
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis. PMID:32574161
Integrating Electronic Health Record Data into the ADEpedia-on-OHDSI Platform for Improved Signal Detection: A Case Study of Immune-related Adverse Events. PMID:32477694
Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review. PMID:32436848
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. PMID:32413979
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. PMID:32386537
A Collective Ranking Method for Genome-wide Association Studies. PMID:32355913
Enhancing Multi-Center Patient Cohort Studies in the Managing Epilepsy Well (MEW) Network: Integrated Data Integration and Statistical Analysis. PMID:32308904
Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis. PMID:32307929
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin. PMID:32307928
Extracting Structured Genotype Information from Free-Text HLA Reports Using a Rule-Based Approach. PMID:32233158
Using the electronic health record for genomics research. PMID:32073412
A comprehensive tool for creating and evaluating privacy-preserving biomedical prediction models. PMID:32046701
Leveraging effect size distributions to improve polygenic risk scores derived from summary statistics of genome-wide association studies. PMID:32045423
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants. PMID:32009526
Clinical Genome Data Model (cGDM) provides Interactive Clinical Decision Support for Precision Medicine. PMID:31996707
Regulating the Secondary Use of Data for Research: Arguments Against Genetic Exceptionalism. PMID:31956328
A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies. PMID:31917831
Linking glycemic dysregulation in diabetes to symptoms, comorbidities, and genetics through EHR data mining. PMID:31818369
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. PMID:31760949
Genomic Prediction of 16 Complex Disease Risks Including Heart Attack, Diabetes, Breast and Prostate Cancer. PMID:31653892
A chronological map of 308 physical and mental health conditions from 4 million individuals in the English National Health Service. PMID:31650125
High-throughput multimodal automated phenotyping (MAP) with application to PheWAS. PMID:31613361
Leaf: an open-source, model-agnostic, data-driven web application for cohort discovery and translational biomedical research. PMID:31592524
Making work visible for electronic phenotype implementation: Lessons learned from the eMERGE network. PMID:31542521
The French Health Data Hub and the German Medical Informatics Initiatives: Two National Projects to Promote Data Sharing in Healthcare. PMID:31419832
Integration of genetic and clinical information to improve imputation of data missing from electronic health records. PMID:31329892
Facilitating phenotype transfer using a common data model. PMID:31325501
GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. PMID:31311600
Detection of probable dementia cases in undiagnosed patients using structured and unstructured electronic health records. PMID:31288818
Phenotype Algorithm based Big Data Analytics for Cancer Diagnose. PMID:31270694
Deep Learning on Electronic Health Records to Improve Disease Coding Accuracy. PMID:31259017
Efficient Active Learning for Electronic Medical Record De-identification. PMID:31259000
Genetically-guided algorithm development and sample size optimization for age-related macular degeneration cases and controls in electronic health records from the VA Million Veteran Program. PMID:31258967
Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System. PMID:31258966
A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. PMID:31249589
Zika discourse in the Americas: A multilingual topic analysis of Twitter. PMID:31120935
Informatics and Computational Methods in Natural Product Drug Discovery: A Review and Perspectives. PMID:31114606
Identification of disease-associated loci using machine learning for genotype and network data integration. PMID:31070705
Natural Language Processing for the Identification of Silent Brain Infarcts From Neuroimaging Reports. PMID:31066686
Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow. PMID:31024324
Informed Consent in Biomedical Research. PMID:31007872
A Roadmap for Foundational Research on Artificial Intelligence in Medical Imaging: From the 2018 NIH/RSNA/ACR/The Academy Workshop. PMID:30990384
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network. PMID:30988330
Systematic evaluation of cancer-specific genetic risk score for 11 types of cancer in The Cancer Genome Atlas and Electronic Medical Records and Genomics cohorts. PMID:30968590
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
Consent2Share: an integrated broad consenting process for re-contacting potential study subjects. PMID:30873469
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. PMID:30827500
Privacy-preserving biomedical data dissemination via a hybrid approach. PMID:30815160
Phenotyping through Semi-Supervised Tensor Factorization (PSST). PMID:30815097
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. PMID:30774981
Feature extraction for phenotyping from semantic and knowledge resources. PMID:30738949
A clinical text classification paradigm using weak supervision and deep representation. PMID:30616584
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals. PMID:30598166
Pharmacogenomic clinical decision support design and multi-site process outcomes analysis in the eMERGE Network. PMID:30590574
Probing the Virtual Proteome to Identify Novel Disease Biomarkers. PMID:30571344
Using Electronic Health Records To Generate Phenotypes For Research. PMID:30516347
Unfolding of hidden white blood cell count phenotypes for gene discovery using latent class mixed modeling. PMID:30459343
Heterogeneous network embedding for identifying symptom candidate genes. PMID:30357378
The E3 ubiquitin ligase MARCH1 regulates glucose-tolerance and lipid storage in a sex-specific manner. PMID:30356278
Genomic and Phenomic Research in the 21st Century. PMID:30342790
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. PMID:30298529
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. PMID:30166544
An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. PMID:30092202
Physician-Reported Benefits and Barriers to Clinical Implementation of Genomic Medicine: A Multi-Site IGNITE-Network Survey. PMID:30042363
Reframing the Biological Basis of Neuroprotection Using Functional Genomics: Differentially Weighted, Time-Dependent Multifactor Pathogenesis of Human Ischemic Brain Damage. PMID:29997569
Development and validation of a heart failure with preserved ejection fraction cohort using electronic medical records. PMID:29954337
Characteristics and treatment of African-American and European-American patients with resistant hypertension identified using the electronic health record in an academic health centre: a case-control study. PMID:29950471
The Data Gap in the EHR for Clinical Research Eligibility Screening. PMID:29888090
CATCH-KB: Establishing a Pharmacogenomics Variant Repository for Chemotherapy-Induced Cardiotoxicity. PMID:29888066
Utility of Genetic Testing in Addition to Mammography for Determining Risk of Breast Cancer Depends on Patient Age. PMID:29888046
Evaluation of Semantic Web Technologies for Storing Computable Definitions of Electronic Health Records Phenotyping Algorithms. PMID:29854204
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. PMID:29703846
The development of large-scale de-identified biomedical databases in the age of genomics-principles and challenges. PMID:29636096
A simulation study investigating power estimates in phenome-wide association studies. PMID:29618318
PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. PMID:29606303
Clinical Natural Language Processing in languages other than English: opportunities and challenges. PMID:29602312
Biomedical informatics and machine learning for clinical genomics. PMID:29566172
Electronic health records: the next wave of complex disease genetics. PMID:29547983
Current Scope and Challenges in Phenome-Wide Association Studies. PMID:29545989
Genetics and Crime: Integrating New Genomic Discoveries Into Psychological Research About Antisocial Behavior. PMID:29513605
Towards phenotyping stroke: Leveraging data from a large-scale epidemiological study to detect stroke diagnosis. PMID:29444182
Informatics and machine learning to define the phenotype. PMID:29431517
Another Round of "Clue" to Uncover the Mystery of Complex Traits. PMID:29370075
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. PMID:29301385
iCHRCloud: Web & Mobile based Child Health Imprints for Smart Healthcare. PMID:29188446
Learning bundled care opportunities from electronic medical records. PMID:29174994
Enabling phenotypic big data with PheNorm. PMID:29126253
Decentralized and reproducible geocoding and characterization of community and environmental exposures for multisite studies. PMID:29126118
Peripheral Arterial Disease Genetics: Progress to Date and Challenges Ahead. PMID:29094207
Exploring completeness in clinical data research networks with DQe-c. PMID:29069394
Pilot screening study of targeted genetic polymorphisms for association with seasonal influenza hospital admission. PMID:29053189
Standard Versus Simplified Consent Materials for Biobank Participation: Differences in Patient Knowledge and Trial Accrual. PMID:29037106
Applying family analyses to electronic health records to facilitate genetic research. PMID:28968884
Prototype Development: Context-Driven Dynamic XML Ophthalmologic Data Capture Application. PMID:28903894
Relationship of SULT1A1 copy number variation with estrogen metabolism and human health. PMID:28867356
Electronic phenotyping with APHRODITE and the Observational Health Sciences and Informatics (OHDSI) data network. PMID:28815104
Pro-inflammatory immune responses are associated with clinical signs and symptoms of human anaplasmosis. PMID:28628633
Self-reported race and ethnicity of US biobank participants compared to the US Census. PMID:28623623
Joint modeling of genetically correlated diseases and functional annotations increases accuracy of polygenic risk prediction. PMID:28598966
Leveraging functional annotations in genetic risk prediction for human complex diseases. PMID:28594818
Cohort restriction based on prior enrollment: Examining potential biases in estimating cancer and mortality risk. PMID:28530002
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants. PMID:28490672
Clinical Data Reuse or Secondary Use: Current Status and Potential Future Progress. PMID:28480475
Using Electronic Medical Record to Identify Patients With Dyslipidemia in Primary Care Settings: International Classification of Disease Code Matters From One Region to a National Database. PMID:28469428
Discriminative and Distinct Phenotyping by Constrained Tensor Factorization. PMID:28442772
Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. PMID:28416512
Building a family network from genetic testing. PMID:28361098
Genomic decision support needs in pediatric primary care. PMID:28339689
Comparing lagged linear correlation, lagged regression, Granger causality, and vector autoregression for uncovering associations in EHR data. PMID:28269874
Genome-wide study of resistant hypertension identified from electronic health records. PMID:28222112
Identification of unique venous thromboembolism-susceptibility variants in African-Americans. PMID:28203683
Development of Type 2 Diabetes Mellitus Phenotyping Framework Using Expert Knowledge and Machine Learning Approach. PMID:27932531
Longitudinal SNP-set association analysis of quantitative phenotypes. PMID:27859628
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies. PMID:27855652
Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. PMID:27848076
Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. PMID:27780847
-Omic and Electronic Health Record Big Data Analytics for Precision Medicine. PMID:27740470
The tip of the iceberg: challenges of accessing hospital electronic health record data for biological data mining. PMID:27688810
Genome privacy: challenges, technical approaches to mitigate risk, and ethical considerations in the United States. PMID:27681358
Diagnosis, misdiagnosis, lucky guess, hearsay, and more: an ontological analysis. PMID:27633888
Surrogate-assisted feature extraction for high-throughput phenotyping. PMID:27632993
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PMID:27623284
Large-Scale Discovery of Disease-Disease and Disease-Gene Associations. PMID:27578529
Development and validation of method for defining conditions using Chinese electronic medical record. PMID:27542973
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases. PMID:27508393
Secure Multi-pArty Computation Grid LOgistic REgression (SMAC-GLORE). PMID:27454168
Relational Network for Knowledge Discovery through Heterogeneous Biomedical and Clinical Features. PMID:27427091
Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution. PMID:27392645
Biomarker development in the precision medicine era: lung cancer as a case study. PMID:27388699
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin. PMID:27321945
Phenome-wide association study maps new diseases to the human major histocompatibility complex region. PMID:27287392
Evidence for extensive pleiotropy among pharmacogenes. PMID:27249515
The Role of Big Data in the Management of Sleep-Disordered Breathing. PMID:27236060
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. PMID:27181682
Extracting a stroke phenotype risk factor from Veteran Health Administration clinical reports: an information content analysis. PMID:27175226
Learning statistical models of phenotypes using noisy labeled training data. PMID:27174893
Facilitating a culture of responsible and effective sharing of cancer genome data. PMID:27149219
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. PMID:27147087
Creation of an Accurate Algorithm to Detect Snellen Best Documented Visual Acuity from Ophthalmology Electronic Health Record Notes. PMID:27146002
Identifying genetically driven clinical phenotypes using linear mixed models. PMID:27109359
Developing a clinical utility framework to evaluate prediction models in radiogenomics. PMID:27095854
Optimizing annotation resources for natural language de-identification via a game theoretic framework. PMID:27020263
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. PMID:26976545
Semi-supervised Learning for Phenotyping Tasks. PMID:26958183
An Associative Memory Model for Integration of Fragmented Research Data and Identification of Treatment Correlations in Breast Cancer Care. PMID:26958161
Perspectives in Polycystic Ovary Syndrome: From Hair to Eternity. PMID:26908109
Achieving Precision Mental Health through Effective Assessment, Monitoring, and Feedback Processes : Introduction to the Special Issue. PMID:26887937
Unravelling the human genome-phenome relationship using phenome-wide association studies. PMID:26875678
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. PMID:26866580
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. PMID:26857349
Developing a utility decision framework to evaluate predictive models in breast cancer risk estimation. PMID:26835489
New Insights Into Aortic Diseases: A Report From the Third International Meeting on Aortic Diseases (IMAD3). PMID:26798669
The IGNITE network: a model for genomic medicine implementation and research. PMID:26729011
Development of a large urban longitudinal HIV clinical cohort using a web-based platform to merge electronically and manually abstracted data from disparate medical record systems: technical challenges and innovative solutions. PMID:26721732
Physician response to implementation of genotype-tailored antiplatelet therapy. PMID:26693963
Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). PMID:26674805
Using Electronic Health Records for Population Health Research: A Review of Methods and Applications. PMID:26667605
EHR based Genetic Testing Knowledge Base (iGTKB) Development. PMID:26606281
Practical considerations in genomic decision support: The eMERGE experience. PMID:26605115
Trends in biomedical informatics: automated topic analysis of JAMIA articles. PMID:26555018
Comparing Mammography Abnormality Features to Genetic Variants in the Prediction of Breast Cancer in Women Recommended for Breast Biopsy. PMID:26514439
Proceedings of the 14th Annual UT-KBRIN Bioinformatics Summit 2015. PMID:26510995
Building the foundation for genomics in precision medicine. PMID:26469044
A conceptual model for translating omic data into clinical action. PMID:26430534
Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series. PMID:26425586
A GWAS Study on Liver Function Test Using eMERGE Network Participants. PMID:26413716
Building a self-measuring healthcare system with computable metrics, data fusion, and substitutable apps. PMID:26389131
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. PMID:26365338
Desiderata for computable representations of electronic health records-driven phenotype algorithms. PMID:26342218
Driving Innovation in Health Systems through an Apps-Based Information Economy. PMID:26339683
The evolution of the human genome. PMID:26338498
Designing Ontology-based Patterns for the Representation of the Time-Relevant Eligibility Criteria of Clinical Protocols. PMID:26306263
Modeling Flowsheet Data for Clinical Research. PMID:26306244
Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. PMID:26284813
A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration. PMID:26255974
A systematic comparison of feature space effects on disease classifier performance for phenotype identification of five diseases. PMID:26241355
Prioritizing Approaches to Engage Community Members and Build Trust in Biobanks: A Survey of Attitudes and Opinions of Adults within Outpatient Practices at the University of Maryland. PMID:26226006
Review and evaluation of electronic health records-driven phenotype algorithm authoring tools for clinical and translational research. PMID:26224336
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. PMID:26221186
Extracting Primary Open-Angle Glaucoma from Electronic Medical Records for Genetic Association Studies. PMID:26061293
"Getting off the Bus Closer to Your Destination": Patients' Views about Pharmacogenetic Testing. PMID:26057686
Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy. PMID:26030142
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. PMID:25982363
The effects of electronic medical record phenotyping details on genetic association studies: HDL-C as a case study. PMID:25969697
Could Patient Self-reported Health Data Complement EHR for Phenotyping? PMID:25954446
Extracting research-quality phenotypes from electronic health records to support precision medicine. PMID:25937834
Toward high-throughput phenotyping: unbiased automated feature extraction and selection from knowledge sources. PMID:25929596
Genetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes. PMID:25926297
The genetic basis of peripheral arterial disease: current knowledge, challenges, and future directions. PMID:25908728
The Southeastern Minnesota Beacon Project for Community-driven Health Information Technology: Origins, Achievements, and Legacy. PMID:25848625
Sustaining Research Networks: the Twenty-Year Experience of the HMO Research Network. PMID:25848605
Recommendations for the use of operational electronic health record data in comparative effectiveness research. PMID:25848563
An integrated, ontology-driven approach to constructing observational databases for research. PMID:25817919
Intelligent use and clinical benefits of electronic health records in rheumatoid arthritis. PMID:25660652
Public trust in health information sharing: implications for biobanking and electronic health record systems. PMID:25654300
Replication of SCN5A Associations with Electrocardio-graphic Traits in African Americans from Clinical and Epidemiologic Studies. PMID:25590050
Ontology-based data integration between clinical and research systems. PMID:25588043
Imputation and quality control steps for combining multiple genome-wide datasets. PMID:25566314
The intelligent use and clinical benefits of electronic medical records in multiple sclerosis. PMID:25495075
Understanding data requirements of retrospective studies. PMID:25453276
Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network. PMID:25436638
Applications of Business Analytics in Healthcare. PMID:25429161
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information. PMID:25411643
Defining disease phenotypes using national linked electronic health records: a case study of atrial fibrillation. PMID:25369203
Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci. PMID:25352737
Genetic variation in the HLA region is associated with susceptibility to herpes zoster. PMID:25297839
Graphical-model Based Multiple Testing under Dependence, with Applications to Genome-wide Association Studies. PMID:25285046
Use of an electronic medical record to create the marshfield clinic twin/multiple birth cohort. PMID:25250975
Progress towards the integration of pharmacogenomics in practice. PMID:25238897
Rethinking biobanking and translational medicine in the Netherlands: how the research process stands to matter for patient care. PMID:25227145
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. PMID:25177340
Practical barriers and ethical challenges in genetic data sharing. PMID:25153467
Clinical Correlates of Autosomal Chromosomal Abnormalities in an Electronic Medical Record-Linked Genome-Wide Association Study: A Case Series. PMID:25125939
EHR Big Data Deep Phenotyping. Contribution of the IMIA Genomic Medicine Working Group. PMID:25123744
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics. PMID:25123743
Phenome-wide association studies (PheWASs) for functional variants. PMID:25074467
Relational machine learning for electronic health record-driven phenotyping. PMID:25048351
Limestone: high-throughput candidate phenotype generation via tensor factorization. PMID:25038555
Size matters: how population size influences genotype-phenotype association studies in anonymized data. PMID:25038554
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study. PMID:25009551
eMERGEing progress in genomics-the first seven years. PMID:24987407
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. PMID:24960519
Design patterns for the development of electronic health record-driven phenotype extraction algorithms. PMID:24960203
Integrating EMR-linked and in vivo functional genetic data to identify new genotype-phenotype associations. PMID:24949630
Genome wide association study of SNP-, gene-, and pathway-based approaches to identify genes influencing susceptibility to Staphylococcus aureus infections. PMID:24847357
Biobanks and electronic medical records: enabling cost-effective research. PMID:24786321
Identifying and mitigating biases in EHR laboratory tests. PMID:24727481
An electronic medical record-linked biorepository to identify novel biomarkers for atherosclerotic cardiovascular disease. PMID:24689004
Using large clinical corpora for query expansion in text-based cohort identification. PMID:24680983
PhenX RISING: real world implementation and sharing of PhenX measures. PMID:24650325
Development of reusable logic for determination of statin exposure-time from electronic health records. PMID:24637142
Admixture mapping and subsequent fine-mapping suggests a biologically relevant and novel association on chromosome 11 for type 2 diabetes in African Americans. PMID:24595071
Genetic and ElectroNic medIcal records to predict oUtcomeS in Heart Failure patients (GENIUS-HF) - design and rationale. PMID:24592820
Biobanks and personalized medicine. PMID:24588254
Mortality and extraintestinal cancers in patients with primary sclerosing cholangitis and inflammatory bowel disease. PMID:24559536
Validation and enhancement of a computable medication indication resource (MEDI) using a large practice-based dataset. PMID:24551419
Secondary use of clinical data: the Vanderbilt approach. PMID:24534443
Validation of PhenX measures in the personalized medicine research project for use in gene/environment studies. PMID:24423110
Influenza detection from emergency department reports using natural language processing and Bayesian network classifiers. PMID:24406261
Pathogenesis of idiosyncratic drug-induced liver injury and clinical perspectives. PMID:24389305
Enhancing the participation of african americans in health-related genetic research: findings of a collaborative academic and community-based research study. PMID:24369499
Pharmacogenetics in clinical pediatrics: challenges and strategies. PMID:24363766
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. PMID:24349080
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. PMID:24348519
Evaluation considerations for EHR-based phenotyping algorithms: A case study for drug-induced liver injury. PMID:24303321
Identifying Abdominal Aortic Aneurysm Cases and Controls using Natural Language Processing of Radiology Reports. PMID:24303276
Development of an electronic research permissions management system to enhance informed consents and capture research authorizations data. PMID:24303263
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. PMID:24302669
Utilization of an EMR-biorepository to identify the genetic predictors of calcineurin-inhibitor toxicity in heart transplant recipients. PMID:24297552
Environment-wide association study (EWAS) for type 2 diabetes in the Marshfield Personalized Medicine Research Project Biobank. PMID:24297547
A rural community's involvement in the design and usability testing of a computer-based informed consent process for the Personalized Medicine Research Project. PMID:24273095
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. PMID:24270849
Normalization and standardization of electronic health records for high-throughput phenotyping: the SHARPn consortium. PMID:24190931
Biobanking: The Melding of Research with Clinical Care. PMID:24159428
The challenges, advantages and future of phenome-wide association studies. PMID:24147732
Clinical implementation of germ line cancer pharmacogenetic variants during the next-generation sequencing era. PMID:24136381
Applied pharmacogenomics in cardiovascular medicine. PMID:24111889
Integration of genomics into the electronic health record: mapping terra incognita. PMID:24097178
Practical challenges in integrating genomic data into the electronic health record. PMID:24071798
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. PMID:24071794
Personalized medicine: challenges and opportunities for translational bioinformatics. PMID:24039624
Stakeholder engagement: a key component of integrating genomic information into electronic health records. PMID:24030437
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. PMID:24026423
A comparison of phenotype definitions for diabetes mellitus. PMID:24026307
Some experiences and opportunities for big data in translational research. PMID:24008998
Analyzing differences between chinese and english clinical text: a cross-institution comparison of discharge summaries in two languages. PMID:23920639
Ethical and practical challenges to studying patients who opt out of large-scale biorepository research. PMID:23886923
At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience. PMID:23882410
Applying active learning to high-throughput phenotyping algorithms for electronic health records data. PMID:23851443
Analysis of cross-institutional medication description patterns in clinical narratives. PMID:23847423
A collaborative approach to developing an electronic health record phenotyping algorithm for drug-induced liver injury. PMID:23837993
Caveats for the use of operational electronic health record data in comparative effectiveness research. PMID:23774517
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records. PMID:23762230
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. PMID:23743551
NCBO Technology: Powering semantically aware applications. PMID:23734708
Genetic variants that confer resistance to malaria are associated with red blood cell traits in African-Americans: an electronic medical record-based genome-wide association study. PMID:23696099
Expanding the foundation for personalized medicine: implications and challenges for dentistry. PMID:23690361
Molecular genetic testing and the future of clinical genomics. PMID:23681062
High-Dimensional Structured Feature Screening Using Binary Markov Random Fields. PMID:23606924
Development and evaluation of an ensemble resource linking medications to their indications. PMID:23576672
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. PMID:23575222
Lessons from Mackenzie that still resonate. PMID:23561780
Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans. PMID:23534349
Validation of electronic medical record-based phenotyping algorithms: results and lessons learned from the eMERGE network. PMID:23531748
Genomics in cardiovascular disease. PMID:23524054
Crossing the omic chasm: a time for omic ancillary systems. PMID:23494000
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. PMID:23463857
Evolving approaches to the ethical management of genomic data. PMID:23453621
Enabling genomic-phenomic association discovery without sacrificing anonymity. PMID:23405076
ICD-9 tobacco use codes are effective identifiers of smoking status. PMID:23396545
A PheWAS approach in studying HLA-DRB1*1501. PMID:23392276
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PMID:23382687
Genetic variation associated with circulating monocyte count in the eMERGE Network. PMID:23314186
Implementing genomic medicine in the clinic: the future is here. PMID:23306799
An evaluation of the NQF Quality Data Model for representing Electronic Health Record driven phenotyping algorithms. PMID:23304366
Mining the human phenome using semantic web technologies: a case study for Type 2 Diabetes. PMID:23304343
Modeling and executing electronic health records driven phenotyping algorithms using the NQF Quality Data Model and JBoss® Drools Engine. PMID:23304325
Leveraging derived data elements in data analytic models for understanding and predicting hospital readmissions. PMID:23304278
Inclusion of pediatric samples in an opt-out biorepository linking DNA to de-identified medical records: pediatric BioVU. PMID:23281421
Applying semantic web technologies for phenome-wide scan using an electronic health record linked Biobank. PMID:23244446
Personal genomic measurements: the opportunity for information integration. PMID:23241835
Data resource profile: cardiovascular disease research using linked bespoke studies and electronic health records (CALIBER). PMID:23220717
Phenotyping clinical disorders: lessons learned from pelvic organ prolapse. PMID:23200709
Cardiovascular pharmacogenomics: the future of cardiovascular therapeutics? PMID:23200096
The Measurement to Understand Reclassification of Disease of Cabarrus/Kannapolis (MURDOCK) Study Community Registry and Biorepository. PMID:23145214
Ethical issues in health research with novel online sources. PMID:23078484
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. PMID:23067351
Community engagement in biobanking: Experiences from the eMERGE Network. PMID:22962560
Next-generation phenotyping of electronic health records. PMID:22955496
Informatics and operations--let's get integrated. PMID:22940670
The MURDOCK Study: a long-term initiative for disease reclassification through advanced biomarker discovery and integration with electronic health records. PMID:22937207
Neonatal Informatics: Transforming Neonatal Care Through Translational Bioinformatics. PMID:22924023
The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era. PMID:22923055
The automatic clinical trial: leveraging the electronic medical record in multisite cancer clinical trials. PMID:22907283
The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. PMID:22828004
Reducing patient re-identification risk for laboratory results within research datasets. PMID:22822040
Using semantic web technologies for cohort identification from electronic health records for clinical research. PMID:22779040
The absence of longitudinal data limits the accuracy of high-throughput clinical phenotyping for identifying type 2 diabetes mellitus subjects. PMID:22762862
Genetics of peripheral artery disease. PMID:22733336
Genetics and cardiovascular disease: a policy statement from the American Heart Association. PMID:22645291
Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. PMID:22560525
Mining electronic health records: towards better research applications and clinical care. PMID:22549152
Electronic medical records as a tool in clinical pharmacology: opportunities and challenges. PMID:22534870
The oral-systemic personalized medicine model at Marshfield Clinic. PMID:22458294
Biobank participation and returning research results: perspectives from a deliberative engagement in South Side Chicago. PMID:22438108
Managing incidental findings and research results in genomic research involving biobanks and archived data sets. PMID:22436882
Using PhenX measures to identify opportunities for cross-study analysis. PMID:22415805
The tension between data sharing and the protection of privacy in genomics research. PMID:22404490
Portability of an algorithm to identify rheumatoid arthritis in electronic health records. PMID:22374935
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. PMID:22361898
Building a robust, scalable and standards-driven infrastructure for secondary use of EHR data: the SHARPn project. PMID:22326800
Importance of multi-modal approaches to effectively identify cataract cases from electronic health records. PMID:22319176
Anonymization of longitudinal electronic medical records. PMID:22287248
Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus. PMID:22249968
Translational informatics: an industry perspective. PMID:22237867
Automatically detecting problem list omissions of type 2 diabetes cases using electronic medical records. PMID:22195167
Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms. PMID:22195079
The SHARPn project on secondary use of Electronic Medical Record data: progress, plans, and possibilities. PMID:22195076
Automated discovery of drug treatment patterns for endocrine therapy of breast cancer within an electronic medical record. PMID:22140207
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. PMID:22125226
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. PMID:22101970
Next steps in cardiovascular disease genomic research--sequencing, epigenetics, and transcriptomics. PMID:22100807
Cataract research using electronic health records. PMID:22078460
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. PMID:22037903
Proceedings of the Tenth Annual UT-ORNL-KBRIN Bioinformatics Summit 2011. PMID:21999392
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. PMID:21981779
Cardiovascular pharmacogenomics. PMID:21921273
Leveraging a clinical research information system to assist biospecimen data and workflow management: a hybrid approach. PMID:21884570
Annotating individual human genomes. PMID:21839162
Identifiability in biobanks: models, measures, and mitigation strategies. PMID:21739176
Genome-wide association studies go green: novel and cost-effective opportunities for identifying genetic associations. PMID:21719615
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. PMID:21700265
Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. PMID:21646302
Population biobanks and returning individual research results: mission impossible or new directions? PMID:21643981
Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience. PMID:21632745
Knowledge-driven multi-locus analysis reveals gene-gene interactions influencing HDL cholesterol level in two independent EMR-linked biobanks. PMID:21589926
Translational bioinformatics: linking knowledge across biological and clinical realms. PMID:21561873
Methods for the de-identification of electronic health records for genomic research. PMID:21542889
Quality control procedures for genome-wide association studies. PMID:21234875
Informed consent in genomics and genetic research. PMID:20477535
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future PubMed citations: 360.

360 articles citing: The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future

Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. PMID:35765100
How can Big Data Analytics Support People-Centred and Integrated Health Services: A Scoping Review. PMID:35756337
PhenoDEF: a corpus for annotating sentences with information of phenotype definitions in biomedical literature. PMID:35690873
Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. PMID:35590255
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record. PMID:35571025
Clinical insights into pulmonary hypertension in chronic obstructive pulmonary disease. PMID:35506103
Advances and challenges in quantitative delineation of the genetic architecture of complex traits. PMID:35492964
From pharmacogenetics to pharmaco-omics: Milestones and future directions. PMID:35373152
Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. PMID:35090449
GA4GH: International policies and standards for data sharing across genomic research and healthcare. PMID:35072136
Improving Diabetes-Related Biomedical Literature Exploration in the Clinical Decision-making Process via Interactive Classification and Topic Discovery: Methodology Development Study. PMID:35040795
The Contribution of Pharmacogenetic Drug Interactions to 90-Day Hospital Readmissions: Preliminary Results from a Real-World Healthcare System. PMID:34945714
Development of a repository of computable phenotype definitions using the clinical quality language. PMID:34926996
APOL1 renal risk variants are associated with obesity and body composition in African ancestry adults: An observational genotype-phenotype association study. PMID:34766590
Integration of Biobanks in National eHealth Ecosystems Facilitating Long-Term Longitudinal Clinical-Omics Studies and Citizens' Engagement in Research Through eHealthBioR. PMID:34713101
HIF-1α Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. PMID:34621299
An independently validated, portable algorithm for the rapid identification of COPD patients using electronic health records. PMID:34620889
How rare and common risk variation jointly affect liability for autism spectrum disorder. PMID:34615521
Genetic discovery and risk characterization in type 2 diabetes across diverse populations. PMID:34604815
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide. PMID:34599365
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. PMID:34582791
Phe2vec: Automated disease phenotyping based on unsupervised embeddings from electronic health records. PMID:34553174
Development of preclinical and clinical models for immune-related adverse events following checkpoint immunotherapy: a perspective from SITC and AACR. PMID:34479924
Integration of NLP2FHIR Representation with Deep Learning Models for EHR Phenotyping: A Pilot Study on Obesity Datasets. PMID:34457156
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry. PMID:34347061
The genetic architecture of plasma kynurenine includes cardiometabolic disease mechanisms associated with the SH2B3 gene. PMID:34341450
Quantitative disease risk scores from EHR with applications to clinical risk stratification and genetic studies. PMID:34302027
Review of Pharmacokinetics and Pharmacogenetics in Atypical Long-Acting Injectable Antipsychotics. PMID:34201784
A unified framework identifies new links between plasma lipids and diseases from electronic medical records across large-scale cohorts. PMID:34140684
Defining Phenotypes from Clinical Data to Drive Genomic Research. PMID:34109303
A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. PMID:34097045
Integrating Somatic and Germline Next-Generation Sequencing Into Routine Clinical Oncology Practice. PMID:34095711
The Role of Electronic Health Records in Advancing Genomic Medicine. PMID:34038146
Effect of a Real-Time Risk Score on 30-day Readmission Reduction in Singapore. PMID:34010978
Phenotype Concept Set Construction from Concept Pair Likelihoods. PMID:33936484
"Who Doesn't Like Receiving Good News?" Perspectives of Individuals Who Received Genomic Screening Results by Mail. PMID:33919001
Identifying developmental stuttering and associated comorbidities in electronic health records and creating a phenome risk classifier. PMID:33894541
Genetic analyses identify widespread sex-differential participation bias. PMID:33888908
Genetic Epidemiology of Complex Phenotypes. PMID:33871853
Phenotyping coronavirus disease 2019 during a global health pandemic: Lessons learned from the characterization of an early cohort. PMID:33838341
A knowledge base of clinical trial eligibility criteria. PMID:33813032
Shared genetic architecture across psychiatric disorders. PMID:33729112
An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results. PMID:33709066
Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation. PMID:33683212
Predictive Analytics for Care and Management of Patients With Acute Diseases: Deep Learning-Based Method to Predict Crucial Complication Phenotypes. PMID:33576744
Strategies to Identify Genetic Variants Causing Infertility. PMID:33431240
Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics. PMID:33420026
ShareDNA: a smartphone app to facilitate family communication of genetic results. PMID:33407467
Detecting Miscoded Diabetes Diagnosis Codes in Electronic Health Records for Quality Improvement: Temporal Deep Learning Approach. PMID:33331828
High-throughput phenotyping with temporal sequences. PMID:33313899
Transformation of Pathology Reports Into the Common Data Model With Oncology Module: Use Case for Colon Cancer. PMID:33295294
Towards a symbiotic relationship between big data, artificial intelligence, and hospital pharmacy. PMID:33292570
Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition. PMID:33248520
Real-time clinical note monitoring to detect conditions for rapid follow-up: A case study of clinical trial enrollment in drug-induced torsades de pointes and Stevens-Johnson syndrome. PMID:33120413
Unraveling racial disparities in asthma emergency department visits using electronic healthcare records and machine learning. PMID:33112174
Toward cross-platform electronic health record-driven phenotyping using Clinical Quality Language. PMID:33083538
Matched Learning for Optimizing Individualized Treatment Strategies Using Electronic Health Records. PMID:33041401
Implementation of a Cohort Retrieval System for Clinical Data Repositories Using the Observational Medical Outcomes Partnership Common Data Model: Proof-of-Concept System Validation. PMID:33021486
Precision Pharmacotherapy: Integrating Pharmacogenomics into Clinical Pharmacy Practice. PMID:32984775
PheMap: a multi-resource knowledge base for high-throughput phenotyping within electronic health records. PMID:32974638
Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. PMID:32964493
Precision Medicine, AI, and the Future of Personalized Health Care. PMID:32961010
Unlocking the Potential of Electronic Health Records for Health Research. PMID:32935049
Public engagement with genomic medicine: a summary of town hall discussions. PMID:32865775
Views on GWAS statistical analysis. PMID:32831520
Review of Clinical Research Informatics. PMID:32823316
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation. PMID:32773773
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk. PMID:32758450
How Will Genetics Inform the Clinical Care of Atrial Fibrillation? PMID:32716712
Relationship between genetic knowledge and familial communication of CRC risk and intent to communicate CRCP genetic information: insights from FamilyTalk eMERGE III. PMID:32579152
Developing a FHIR-based Framework for Phenome Wide Association Studies: A Case Study with A Pan-Cancer Cohort. PMID:32477698
Ethical, Legal, and Social Issues Related to the Inclusion of Individuals With Intellectual Disabilities in Electronic Health Record Research: Scoping Review. PMID:32436848
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. PMID:32413979
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups. PMID:32386537
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. PMID:32372017
Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health. PMID:32371921
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. PMID:32349224
From Genetics to Genomics: Facing the Liability Implications in Clinical Care. PMID:32342786
Considerations for Improving the Portability of Electronic Health Record-Based Phenotype Algorithms. PMID:32308871
A Roadmap for Global Acceleration of Genomics Integration Across Nursing. PMID:32301236
Electronic health records and polygenic risk scores for predicting disease risk. PMID:32235907
A systematic review of the applications of artificial intelligence and machine learning in autoimmune diseases. PMID:32195365
Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience. PMID:32077359
Using the electronic health record for genomics research. PMID:32073412
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants. PMID:32009526
Exploring genetic targets of psoriasis using genome wide association studies (GWAS) for drug repurposing. PMID:31988837
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. PMID:31980526
Drug repurposing to improve treatment of rheumatic autoimmune inflammatory diseases. PMID:31831878
Linking glycemic dysregulation in diabetes to symptoms, comorbidities, and genetics through EHR data mining. PMID:31818369
Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study. PMID:31808996
Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives. PMID:31777672
Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals. PMID:31760949
Translational Health Disparities Research in a Data-Rich World. PMID:31720554
Developing a FHIR-based EHR phenotyping framework: A case study for identification of patients with obesity and multiple comorbidities from discharge summaries. PMID:31622801
Precision oncology: lessons learned and challenges for the future. PMID:31616176
High-throughput multimodal automated phenotyping (MAP) with application to PheWAS. PMID:31613361
Psychiatric Genetics, Epigenetics, and Cellular Models in Coming Years. PMID:31608310
Association of Genetic Risk of Obesity with Postoperative Complications Using Mendelian Randomization. PMID:31605180
Comparison of the cohort selection performance of Australian Medicines Terminology to Anatomical Therapeutic Chemical mappings. PMID:31545380
Cohort selection for clinical trials using deep learning models. PMID:31532478
The current state of omics technologies in the clinical management of asthma and allergic diseases. PMID:31494234
Developing a Standardization Algorithm for Categorical Laboratory Tests for Clinical Big Data Research: Retrospective Study. PMID:31469075
Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. PMID:31457090
Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good. PMID:31455423
Augmented intelligence with natural language processing applied to electronic health records for identifying patients with non-alcoholic fatty liver disease at risk for disease progression. PMID:31445275
Disease Models & Mechanisms in the Age of Big Data. PMID:31439575
The French Health Data Hub and the German Medical Informatics Initiatives: Two National Projects to Promote Data Sharing in Healthcare. PMID:31419832
AI in Health: State of the Art, Challenges, and Future Directions. PMID:31419814
Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia in 106,160 Patients Across Four Health Care Systems. PMID:31416338
The "All of Us" Research Program. PMID:31412182
Building evidence and measuring clinical outcomes for genomic medicine. PMID:31395443
Integration of genetic and clinical information to improve imputation of data missing from electronic health records. PMID:31329892
UK phenomics platform for developing and validating electronic health record phenotypes: CALIBER. PMID:31329239
Insights into Computational Drug Repurposing for Neurodegenerative Disease. PMID:31326236
Facilitating phenotype transfer using a common data model. PMID:31325501
Cohort selection for clinical trials using hierarchical neural network. PMID:31305921
Detection of probable dementia cases in undiagnosed patients using structured and unstructured electronic health records. PMID:31288818
Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System. PMID:31258966
A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids. PMID:31249589
Requirements and validation of a prototype learning health system for clinical diagnosis. PMID:31245568
Cross border semantic interoperability for learning health systems: The EHR4CR semantic resources and services. PMID:31245551
Advances in Electronic Phenotyping: From Rule-Based Definitions to Machine Learning Models. PMID:31218278
A Genome-Wide Association Study Identifies Blood Disorder-Related Variants Influencing Hemoglobin A1c With Implications for Glycemic Status in U.S. Hispanics/Latinos. PMID:31213470
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. PMID:31104772
Role of Health Information Technology in Addressing Health Disparities: Patient, Clinician, and System Perspectives. PMID:31095049
Cohort Profile: Extended Cohort for E-health, Environment and DNA (EXCEED). PMID:31062032
PGxO and PGxLOD: a reconciliation of pharmacogenomic knowledge of various provenances, enabling further comparison. PMID:30999867
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network. PMID:30988330
Developing a portable natural language processing based phenotyping system. PMID:30943974
Personalized Medicine and the Power of Electronic Health Records. PMID:30901549
From Big Data to Precision Medicine. PMID:30881956
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. PMID:30827500
Detecting the Presence of an Individual in Phenotypic Summary Data. PMID:30815118
An ancillary genomics system to support the return of pharmacogenomic results. PMID:30778576
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR. PMID:30774981
Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. PMID:30673079
Lessons Learned From GWAS of Asthma. PMID:30661310
High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report. PMID:30592451
Enrichment sampling for a multi-site patient survey using electronic health records and census data. PMID:30590688
Pharmacogenomic clinical decision support design and multi-site process outcomes analysis in the eMERGE Network. PMID:30590574
Probing the Virtual Proteome to Identify Novel Disease Biomarkers. PMID:30571344
Developing a Process for Returning Medically Actionable Genomic Variants to Latino Patients in a Federally Qualified Health Center. PMID:30522109
Polygenic risk score identifies associations between sleep duration and diseases determined from an electronic medical record biobank. PMID:30521049
SumHer better estimates the SNP heritability of complex traits from summary statistics. PMID:30510236
Qualitative study of system-level factors related to genomic implementation. PMID:30467402
Current landscape of personalized medicine adoption and implementation in Southeast Asia. PMID:30367635
Genomic and Phenomic Research in the 21st Century. PMID:30342790
The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype. PMID:30298529
Histopathological Image QTL Discovery of Immune Infiltration Variants. PMID:30240647
Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. PMID:30240342
A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. PMID:30166544
SNOMED CT Concept Hierarchies for Sharing Definitions of Clinical Conditions Using Electronic Health Record Data. PMID:30157499
Features Associated With Discordance Between Pulmonary Arterial Wedge Pressure and Left Ventricular End Diastolic Pressure in Clinical Practice: Implications for Pulmonary Hypertension Classification. PMID:30148982
A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information. PMID:30133727
A case study evaluating the portability of an executable computable phenotype algorithm across multiple institutions and electronic health record environments. PMID:30124903
Evolving systems biology approaches to understanding non-coding RNAs in pulmonary hypertension. PMID:30113078
Population genealogy resource shows evidence of familial clustering for Alzheimer disease. PMID:30109265
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. PMID:30100086
Enabling Precision Cardiology Through Multiscale Biology and Systems Medicine. PMID:30062151
Using whole genome scores to compare three clinical phenotyping methods in complex diseases. PMID:30054501
A framework for enhancing ethical genomic research with Indigenous communities. PMID:30054469
MIRACUM: Medical Informatics in Research and Care in University Medicine. PMID:30016814
Data Integration for Future Medicine (DIFUTURE). PMID:30016812
Extracting Deep Phenotypes for Chronic Kidney Disease Using Electronic Health Records. PMID:29930957
Physicians' perspectives on receiving unsolicited genomic results. PMID:29904163
i2b2 implemented over SMART-on-FHIR. PMID:29888095
Perfectly Secure and Efficient Two-Party Electronic-Health-Record Linkage. PMID:29867290
Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association. PMID:29844141
Electronic Medical Records Enable Precision Medicine Approaches for Celiac Disease. PMID:29746345
LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. PMID:29703846
A simulation study investigating power estimates in phenome-wide association studies. PMID:29618318
Electronic health records: the next wave of complex disease genetics. PMID:29547983
Development of an automated phenotyping algorithm for hepatorenal syndrome. PMID:29530803
Racial differences in patients referred for right heart catheterization and risk of pulmonary hypertension. PMID:29480090
Leveraging the Learning Health Care Model to Improve Equity in the Age of Genomic Medicine. PMID:29457138
Informatics and machine learning to define the phenotype. PMID:29431517
Estimating summary statistics for electronic health record laboratory data for use in high-throughput phenotyping algorithms. PMID:29369797
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. PMID:29301385
Automated disease cohort selection using word embeddings from Electronic Health Records. PMID:29218877
The Influence of Big (Clinical) Data and Genomics on Precision Medicine and Drug Development. PMID:29171014
Prioritizing diversity in human genomics research. PMID:29151588
Predicting age by mining electronic medical records with deep learning characterizes differences between chronological and physiological age. PMID:29113935
Electronic Health Record Phenotypes for Precision Medicine: Perspectives and Caveats From Treatment of Breast Cancer at a Single Institution. PMID:29084368
Representing Knowledge Consistently Across Health Systems. PMID:29063555
Electronic health record and genome-wide genetic data in Generation Scotland participants. PMID:29062915
High-fidelity phenotyping: richness and freedom from bias. PMID:29040596
Applying family analyses to electronic health records to facilitate genetic research. PMID:28968884
Quality Requirements for Electronic Health Record Systems*. A Japanese-German Information Management Perspective. PMID:28925415
Methods for enhancing the reproducibility of biomedical research findings using electronic health records. PMID:28912836
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. PMID:28895531
Design Recommendations for Pharmacogenomics Clinical Decision Support Systems. PMID:28815136
A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system. PMID:28796238
Controlling the signal: Practical privacy protection of genomic data sharing through Beacon services. PMID:28786360
Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals. PMID:28770004
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PMID:28686612
Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results. PMID:28656483
Healthcare provider education to support integration of pharmacogenomics in practice: the eMERGE Network experience. PMID:28639489
The use of electronic health records for psychiatric phenotyping and genomics. PMID:28557243
Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study. PMID:28502727
Secondary Use and Analysis of Big Data Collected for Patient Care. PMID:28480474
Big Data Science: Opportunities and Challenges to Address Minority Health and Health Disparities in the 21st Century. PMID:28439179
Fine-mapping of lipid regions in global populations discovers ethnic-specific signals and refines previously identified lipid loci. PMID:28426890
Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. PMID:28416512
Combining clinical and genomics queries using i2b2 - Three methods. PMID:28388645
Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans. PMID:28335839
Orchestrating differential data access for translational research: a pilot implementation. PMID:28330491
Phenome-wide association studies: a new method for functional genomics in humans. PMID:28229460
Genome-wide study of resistant hypertension identified from electronic health records. PMID:28222112
Big Data Analytics for Genomic Medicine. PMID:28212287
Identification of unique venous thromboembolism-susceptibility variants in African-Americans. PMID:28203683
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. PMID:28190457
Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing. PMID:28103227
The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems. PMID:28090649
Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial. PMID:27993947
Incorporating Pharmacogenomics into Health Information Technology, Electronic Health Record and Decision Support System: An Overview. PMID:27987157
Clinical and Biological Insights Into Combined Post- and Pre-Capillary Pulmonary Hypertension. PMID:27931609
Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records. PMID:27930734
The Application of Genomics in Diabetes: Barriers to Discovery and Implementation. PMID:27926887
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. PMID:27899403
Longitudinal SNP-set association analysis of quantitative phenotypes. PMID:27859628
Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies. PMID:27855652
Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts. PMID:27848076
Clinical Research Informatics for Big Data and Precision Medicine. PMID:27830253
Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. PMID:27780847
Genomic sequencing in clinical practice: applications, challenges, and opportunities. PMID:27757064
-Omic and Electronic Health Record Big Data Analytics for Precision Medicine. PMID:27740470
Integration of complex data sources to provide biologic insight into pulmonary vascular disease (2015 Grover Conference Series). PMID:27683602
Rapid identification of familial hypercholesterolemia from electronic health records: The SEARCH study. PMID:27678441
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. PMID:27652374
Replicating Cardiovascular Condition-Birth Month Associations. PMID:27624541
Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PMID:27623284
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
Identification of Four Novel Loci in Asthma in European American and African American Populations. PMID:27611488
Phenome-Wide Association Study of Rheumatoid Arthritis Subgroups Identifies Association Between Seronegative Disease and Fibromyalgia. PMID:27589350
Development and validation of method for defining conditions using Chinese electronic medical record. PMID:27542973
eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. PMID:27535653
Phenome-Wide Association Study to Explore Relationships between Immune System Related Genetic Loci and Complex Traits and Diseases. PMID:27508393
Estimating Marginal Healthcare Costs Using Genetic Variants as Instrumental Variables: Mendelian Randomization in Economic Evaluation. PMID:27484822
Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution. PMID:27392645
Data Safe Havens and Trust: Toward a Common Understanding of Trusted Research Platforms for Governing Secure and Ethical Health Research. PMID:27329087
Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine. PMID:27195526
Opportunities and challenges in developing risk prediction models with electronic health records data: a systematic review. PMID:27189013
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. PMID:27181682
Learning statistical models of phenotypes using noisy labeled training data. PMID:27174893
Phenome-Wide Association Studies as a Tool to Advance Precision Medicine. PMID:27147087
Creation of an Accurate Algorithm to Detect Snellen Best Documented Visual Acuity from Ophthalmology Electronic Health Record Notes. PMID:27146002
Defining Disease Phenotypes in Primary Care Electronic Health Records by a Machine Learning Approach: A Case Study in Identifying Rheumatoid Arthritis. PMID:27135409
Pharmacogenetics: Implications for Modern Type 2 Diabetes Therapy. PMID:27111121
Interdisciplinary training to build an informatics workforce for precision medicine. PMID:27054076
ePhenotyping for Abdominal Aortic Aneurysm in the Electronic Medical Records and Genomics (eMERGE) Network: Algorithm Development and Konstanz Information Miner Workflow. PMID:27054044
PheKB: a catalog and workflow for creating electronic phenotype algorithms for transportability. PMID:27026615
Pragmatic precision oncology: the secondary uses of clinical tumor molecular profiling. PMID:27026612
Preserving temporal relations in clinical data while maintaining privacy. PMID:27013522
Big data analytics to improve cardiovascular care: promise and challenges. PMID:27009423
Genomics in CKD: Is This the Path Forward? PMID:26979150
Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association. PMID:26976545
A Multidimensional Data Warehouse for Community Health Centers. PMID:26958297
Contrasting Association Results between Existing PheWAS Phenotype Definition Methods and Five Validated Electronic Phenotypes. PMID:26958218
The phenotypic legacy of admixture between modern humans and Neandertals. PMID:26912863
The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research. PMID:26866580
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. PMID:26857349
An eMERGE Clinical Center at Partners Personalized Medicine. PMID:26805891
BIOFILTER AS A FUNCTIONAL ANNOTATION PIPELINE FOR COMMON AND RARE COPY NUMBER BURDEN. PMID:26776200
KNOWLEDGE DRIVEN BINNING AND PHEWAS ANALYSIS IN MARSHFIELD PERSONALIZED MEDICINE RESEARCH PROJECT USING BIOBIN. PMID:26776191
Privacy-preserving GWAS analysis on federated genomic datasets. PMID:26733045
Integrating electronic health record genotype and phenotype datasets to transform patient care. PMID:26667791
Privacy in the Genomic Era. PMID:26640318
Practical considerations in genomic decision support: The eMERGE experience. PMID:26605115
Transforming Healthcare Delivery: Integrating Dynamic Simulation Modelling and Big Data in Health Economics and Outcomes Research. PMID:26497003
Design and Implementation of the International Genetics and Translational Research in Transplantation Network. PMID:26479416
Pharmacogenomics in the clinic. PMID:26469045
Building the foundation for genomics in precision medicine. PMID:26469044
A conceptual model for translating omic data into clinical action. PMID:26430534
Biological data sciences in genome research. PMID:26430150
Boosting for high-dimensional two-class prediction. PMID:26390865
A study of active learning methods for named entity recognition in clinical text. PMID:26385377
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. PMID:26365338
Identification of Nonresponse to Treatment Using Narrative Data in an Electronic Health Record Inflammatory Bowel Disease Cohort. PMID:26332313
A Modular Architecture for Electronic Health Record-Driven Phenotyping. PMID:26306258
Health Informatics via Machine Learning for the Clinical Management of Patients. PMID:26293849
A Validated Phenotyping Algorithm for Genetic Association Studies in Age-related Macular Degeneration. PMID:26255974
How next-generation sequencing and multiscale data analysis will transform infectious disease management. PMID:26251049
Governing the research-care divide in clinical biobanking: Dutch perspectives. PMID:26246123
Common Genetic Variants Influence Circulating Vitamin D Levels in Inflammatory Bowel Diseases. PMID:26241000
Perceptions of Personalized Medicine in an Academic Health System: Educational Findings. PMID:26236542
Prioritizing Approaches to Engage Community Members and Build Trust in Biobanks: A Survey of Attitudes and Opinions of Adults within Outpatient Practices at the University of Maryland. PMID:26226006
Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. PMID:26221186
Ease of adoption of clinical natural language processing software: An evaluation of five systems. PMID:26210361
A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough. PMID:26169577
Phenome-Wide Association Studies: Leveraging Comprehensive Phenotypic and Genotypic Data for Discovery. PMID:26146598
Pragmatic and Ethical Challenges of Incorporating the Genome into the Electronic Medical Record. PMID:26146597
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. PMID:26142422
Personalized medicine going precise: from genomics to microbiomics. PMID:26129865
Are physicians prepared for whole genome sequencing? a qualitative analysis. PMID:26080898
"Getting off the Bus Closer to Your Destination": Patients' Views about Pharmacogenetic Testing. PMID:26057686
Global implementation of genomic medicine: We are not alone. PMID:26041702
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network. PMID:25982363
The effects of electronic medical record phenotyping details on genetic association studies: HDL-C as a case study. PMID:25969697
Scalable and High-Throughput Execution of Clinical Quality Measures from Electronic Health Records using MapReduce and the JBoss® Drools Engine. PMID:25954459
A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project. PMID:25954402
Development and validation of an electronic phenotyping algorithm for chronic kidney disease. PMID:25954398
Disease progression subtype discovery from longitudinal EMR data with a majority of missing values and unknown initial time points. PMID:25954377
Extracting research-quality phenotypes from electronic health records to support precision medicine. PMID:25937834
R-U policy frontiers for health data de-identification. PMID:25911674
Big Data Technologies: New Opportunities for Diabetes Management. PMID:25910540
Advances in risk prediction of type 2 diabetes: integrating genetic scores with Framingham risk models. PMID:25908872
The foundation of precision medicine: integration of electronic health records with genomics through basic, clinical, and translational research. PMID:25852745
The Southeastern Minnesota Beacon Project for Community-driven Health Information Technology: Origins, Achievements, and Legacy. PMID:25848625
Adapting bioinformatics curricula for big data. PMID:25829469
Traits and types of health data repositories. PMID:25825668
A game theoretic framework for analyzing re-identification risk. PMID:25807380
The potential of translational bioinformatics approaches for pharmacology research. PMID:25753093
Prediction of treatment outcomes in psychiatry--where do we stand ? PMID:25733951
Cardiometabolic effects of genetic upregulation of the interleukin 1 receptor antagonist: a Mendelian randomisation analysis. PMID:25726324
Imputation and quality control steps for combining multiple genome-wide datasets. PMID:25566314
Genomic architecture of pharmacological efficacy and adverse events. PMID:25521360
Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records. PMID:25414722
A proposed clinical decision support architecture capable of supporting whole genome sequence information. PMID:25411644
The need for clinical decision support integrated with the electronic health record for the clinical application of whole genome sequencing information. PMID:25411643
Defining disease phenotypes using national linked electronic health records: a case study of atrial fibrillation. PMID:25369203
An epidemiological perspective of personalized medicine: the Estonian experience. PMID:25339628
Regulatory polymorphisms in human DBH affect peripheral gene expression and sympathetic activity. PMID:25326128
Clinical integration of next generation sequencing: coverage and reimbursement challenges. PMID:25298289
Genetic variation in the HLA region is associated with susceptibility to herpes zoster. PMID:25297839
Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index. PMID:25177340
Simple, standardized incorporation of genetic risk into non-genetic risk prediction tools for complex traits: coronary heart disease as an example. PMID:25136350
Surveying Recent Themes in Translational Bioinformatics: Big Data in EHRs, Omics for Drugs, and Personal Genomics. PMID:25123743
A review of the role of electronic health record in genomic research. PMID:25119857
Data-driven discovery of seasonally linked diseases from an Electronic Health Records system. PMID:25078762
The electronic health record for translational research. PMID:25070682
Metformin pharmacogenomics: current status and future directions. PMID:25060887
Validating drug repurposing signals using electronic health records: a case study of metformin associated with reduced cancer mortality. PMID:25053577
Size matters: how population size influences genotype-phenotype association studies in anonymized data. PMID:25038554
Educating physicians in the era of genomic medicine. PMID:25031626
eMERGEing progress in genomics-the first seven years. PMID:24987407
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. PMID:24960519
Genetic-based prediction of disease traits: prediction is very difficult, especially about the future. PMID:24917882
Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes. PMID:24860591
Big data and biomedical informatics: a challenging opportunity. PMID:24853034
Update on abdominal aortic aneurysm research: from clinical to genetic studies. PMID:24834361
Biobanks and electronic medical records: enabling cost-effective research. PMID:24786321
Pharmacogenomics in oncology care. PMID:24782887
Return of results in the genomic medicine projects of the eMERGE network. PMID:24723935
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. PMID:24672537
Characterizing genetic variants for clinical action. PMID:24634402
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk. PMID:24633158
Mortality and extraintestinal cancers in patients with primary sclerosing cholangitis and inflammatory bowel disease. PMID:24559536
Strategic opportunities in sleep and circadian research: report of the Joint Task Force of the Sleep Research Society and American Academy of Sleep Medicine. PMID:24501434
Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data. PMID:24349080
Electronic health records-driven phenotyping: challenges, recent advances, and perspectives. PMID:24302669
Making the genomic leap in HCT: application of second-generation sequencing to clinical advances in hematopoietic cell transplantation. PMID:24253860
Automated extraction of clinical traits of multiple sclerosis in electronic medical records. PMID:24148554
Integration of genomics into the electronic health record: mapping terra incognita. PMID:24097178
Characterization of statin dose response in electronic medical records. PMID:24096969
The undiscovered country: the future of integrating genomic information into the EHR. PMID:24071799
Opportunities for genomic clinical decision support interventions. PMID:24051479
Stakeholder engagement: a key component of integrating genomic information into electronic health records. PMID:24030437
Ethical, legal, and social implications of incorporating genomic information into electronic health records. PMID:24030434
At the Interface between Medical Informatics and Personalized Medicine: The eMERGE Network Experience. PMID:23882410
Genomic medicine, precision medicine, personalized medicine: what's in a name? PMID:23872826

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National Health and Disease Human Brain Tissue Resource Center

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