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Patient-Centered Outcomes Measurement: Does It Require Information From Patients?

? Authors Leif I. Solberg, Stephen E. Asche, John Butler, David Carrell, Christine K. Norton, Jeffrey G. Jarvik, Rebecca Smith-Bindman, Juliana O. Tillema, Robin R. Whitebird, Ann M. Werner, and Jeanette Y

Negation’s Not Solved: Generalizability Versus Optimizability in Clinical Natural Language Processing

detection algorithms and semi-supervised domain adaptation. Acknowledgments The authors would like to acknowledge David Carrell and David Harris for their work with the corpora and associated guidelines

Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies

Background Community associated methicillin-resistant Staphylococcus aureus (CA-MRSA) is one of the most common causes of skin and soft tissue infections in the United States, and a variety of genetic host factors are suspected to be risk factors for recurrent infection. Based on the CDC definition, we have developed and validated an electronic health record (EHR) based CA-MRSA...

Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40

Background Alzheimer’s disease (AD) pathology appears several years before clinical symptoms, so identifying ways to detect individuals in the preclinical stage is imperative. The cerebrospinal fluid (CSF) Tau/Aβ 42 ratio is currently the best known predictor of AD status and cognitive decline, and the ratio of CSF levels of chitinase-3-like 1 protein (CHI3L1, YKL-40) and amyloid...

Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European–Americans

Introduction A recent study found a significant increase of ABCA7 loss-of-function variants in Alzheimer’s disease (AD) cases compared to controls. Some variants were located on noncoding regions, but it was demonstrated that they affect splicing. Here, we try to replicate the association between AD risk and ABCA7 loss-of-function variants at both the single-variant and gene...

TREM2 is associated with increased risk for Alzheimer’s disease in African Americans

Background TREM2 encodes for triggering receptor expressed on myeloid cells 2 and has rare, coding variants that associate with risk for late-onset Alzheimer’s disease (LOAD) in Caucasians of European and North-American origin. This study evaluated the role of TREM2 in LOAD risk in African-American (AA) subjects. We performed exonic sequencing and validation in two independent...

Genome-wide study of resistant hypertension identified from electronic health records

Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes. Despite the important health consequences of resistant hypertension, few studies of resistant hypertension have been conducted. To perform a genome-wide association study for resistant hypertension, we...

Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network

. Denny 0 1 9 10 15 Suzette J. Bielinski 4 13 15 Melissa A. Basford 5 14 15 Yuki Bradford 3 12 15 Peggy L. Peissig 7 15 David Carrell 8 15 David R. Crosslin 15 Jyotishman Pathak 6 15 Luke Rasmussen 7 15

Polymerase Chain Reaction for Detection of Herpes Simplex Virus (HSV) DNA on Mucosal Surfaces: Comparison with HSV Isolation in Cell Culture

This study compared the rate of isolation of herpes simplex virus (HSV) from >36,000 samples of mucosal secretions obtained from 296 HSV-infected persons versus the rate of detection of HSV DNA, by means of a real-time quantitative polymerase chain reaction (PCR) assay. Overall, HSV was isolated in 3.0% of samples, and HSV DNA was detected in 12.1% of samples. The mean number of...

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

The primary constituents of plaques (Aβ42/Aβ40) and neurofibrillary tangles (tau and phosphorylated forms of tau [ptau]) are the current leading diagnostic and prognostic cerebrospinal fluid (CSF) biomarkers for AD. In this study, we performed deep sequencing of APP, PSEN1, PSEN2, GRN, APOE and MAPT genes in individuals with extreme CSF Aβ42, tau, or ptau levels. One known...

Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

, Washington University School of Medicine, 660 S. Euclid Ave. B8134, St. Louis, MO 63110, USAYuetiva Deming, Jian Xia, Yefei Cai, Jenny Lord, Jorge L. Del-Aguila, Maria Victoria Fernandez, David Carrell ... • Google ScholarSearch for Jorge L. Del-Aguila in:Nature Research journals • PubMed • Google ScholarSearch for Maria Victoria Fernandez in:Nature Research journals • PubMed • Google ScholarSearch for David