Electronic health records (EHRs) contain rich temporal data about infectious diseases, but an optimal approach to identify infections remains undefined. Using the Research Program, we developed computable phenotypes for respiratory viruses by integrating billing codes, prescriptions, and laboratory results within 90-day episodes. Phenotypes computed from 265,222 participants yielded cohorts ranging from 238 (adenovirus) to 28,729 (SARS-CoV-2) cases.
View Article and Find Full Text PDFSummary: With the rapid growth of genetic data linked to electronic health record (EHR) data in huge cohorts, large-scale phenome-wide association study (PheWAS) have become powerful discovery tools in biomedical research. PheWAS is an analysis method to study phenotype associations utilizing longitudinal EHR data. Previous PheWAS packages were developed mostly with smaller datasets and with earlier PheWAS approaches.
View Article and Find Full Text PDFTo facilitate the intelligent classification of unmanned highway toll stations, selecting effective and useful features is pivotal. This process involves achieving a tradeoff between the number of features and the classification accuracy while also reducing the acquisition costs of features. To address these challenges, a multimodal multi-objective feature selection (MMOFS) method is proposed in the current study.
View Article and Find Full Text PDFSummary: With the rapid growth of genetic data linked to electronic health record data in huge cohorts, large-scale phenome-wide association study (PheWAS), have become powerful discovery tools in biomedical research. PheWAS is an analysis method to study phenotype associations utilizing longitudinal electronic health record (EHR) data. Previous PheWAS packages were developed mostly in the days of smaller biobanks and with earlier PheWAS approaches.
View Article and Find Full Text PDFNature
March 2024
medRxiv
March 2023
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes. To characterise the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study (GWAS) data from 2,535,601 individuals (39.7% non-European ancestry), including 428,452 T2D cases.
View Article and Find Full Text PDFDetection of measurable residual disease (MRD) in chronic lymphocytic leukemia (CLL) is an important prognostic marker. The most common CLL MRD method in current use is multiparameter flow cytometry, but availability is limited by the need for expert manual analysis. Automated analysis has the potential to expand access to CLL MRD testing.
View Article and Find Full Text PDFIsocitrate dehydrogenase (IDH) mutant gliomas are associated with a better prognosis in comparison to adult IDH wild-type glioma and glioma-CpG island methylator phenotypes. Although OLIG2 is mainly expressed in oligodendrocytes in normal adult brain, it is expressed in both astrocytomas and oligodendrogliomas. Utilizing the clinical, DNA methylation, and RNA-sequencing data from the Cancer Genome Atlas (TCGA) for lower-grade glioma and glioblastoma cohorts, we explored the association between IDH mutation status and OLIG2 expression on transcription, DNA methylation, and gene target levels.
View Article and Find Full Text PDFCytometry B Clin Cytom
July 2022
Background: Prompt diagnosis of acute promyelocytic leukemia (APL) is critical for patient care. In this study, we aimed to characterize the immunophenotype of APL and explore immunophenotypic difference between APL and its mimics using flow cytometric analysis.
Methods: Eighty-five cases were collected, including 47 APL, 26 NPM1-mutated acute myeloid leukemia (AML) and 12 KMT2A-rearranged AML with an APL-like immunophenotype.
Precision medicine offers the potential to improve health through deeper understandings of the lifestyle, biological, and environmental influences on health. Under Dr. Donald A.
View Article and Find Full Text PDFStud Health Technol Inform
February 2022
Precision medicine offers the potential to improve health through deeper understandings of the lifestyle, biological, and environmental influences on health. Under Dr. Donald A.
View Article and Find Full Text PDFEnhancer of zeste homolog 2 (EZH2) is a catalytic component of the polycomb repressive complex 2 (PRC2) which reduces gene expression via trimethylation of a lysine residue of histone 3 (H3K27me3). Expression of EZH2 has not been assessed systematically in mantle cell lymphoma (MCL). Expression of EZH2 was assessed by immunohistochemistry in 166 patients with MCL.
View Article and Find Full Text PDFObjective: To explore the efficacy of primary chemoradiation with cisplatin versus cetuximab with respect to HPV/p16 and smoking statuses.
Methods: We retrospectively reviewed patients from our center with locally advanced non-nasopharyngeal head and neck squamous cell carcinoma (HNSCC) who received primary chemoradiation with cisplatin or cetuximab between 2006 and 2018.
Results: The median OS for cisplatin (n = 66) was not reached versus 132 months when treated with cetuximab (n = 55) (p = 0.
Genome-wide association study (GWAS) data have linked the gene to variations in fasting blood glucose (FBG). encodes an islet-specific glucose-6-phosphatase catalytic subunit that forms a substrate cycle with the beta cell glucose sensor glucokinase. This cycle modulates the glucose sensitivity of insulin secretion and hence FBG.
View Article and Find Full Text PDFJ Clin Invest
December 2016
Rapid impulse propagation in the heart is a defining property of pectinated atrial myocardium (PAM) and the ventricular conduction system (VCS) and is essential for maintaining normal cardiac rhythm and optimal cardiac output. Conduction defects in these tissues produce a disproportionate burden of arrhythmic disease and are major predictors of mortality in heart failure patients. Despite the clinical importance, little is known about the gene regulatory network that dictates the fast conduction phenotype.
View Article and Find Full Text PDFObjective: The differences between seronegative and seropositive rheumatoid arthritis (RA) have not been widely reported. We performed electronic health record (EHR)-based phenome-wide association studies (PheWAS) to identify disease associations in seropositive and seronegative RA.
Methods: A validated algorithm identified RA subjects from the de-identified version of the Vanderbilt University Medical Center EHR.
AMIA Jt Summits Transl Sci Proc
August 2016
The Quality Data Model (QDM) is an established standard for representing electronic clinical quality measures on electronic health record (EHR) repositories. The Informatics for Integrated Biology and the Bedside (i2b2) is a widely used platform for implementing clinical data repositories. However, translation from QDM to i2b2 is challenging, since QDM allows for complex queries beyond the capability of single i2b2 messages.
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