Objective: Develop evidence-based recommendations for single-reviewer validation of electronic phenotyping results in operational settings.
Material And Methods: We conducted a randomized controlled study to evaluate whether electronic phenotyping results should be used to support manual chart review during single-reviewer electronic phenotyping validation (N=3104). We evaluated the accuracy, duration and cost of manual chart review with and without the availability of electronic phenotyping results, including relevant patient-specific details. The cost of identification of an erroneous electronic phenotyping result was calculated based on the personnel time required for the initial chart review and subsequent adjudication of discrepancies between manual chart review results and electronic phenotype determinations.
Results: Providing electronic phenotyping results (vs not providing those results) was associated with improved overall accuracy of manual chart review (98.90% vs 92.46%, p<0.001), decreased review duration per test case (62.43 vs 76.78s, p<0.001), and insignificantly reduced estimated marginal costs of identification of an erroneous electronic phenotyping result ($48.54 vs $63.56, p=0.16). The agreement between chart review and electronic phenotyping results was higher when the phenotyping results were provided (Cohen's kappa 0.98 vs 0.88, p<0.001). As a result, while accuracy improved when initial electronic phenotyping results were correct (99.74% vs 92.67%, N=3049, p<0.001), there was a trend towards decreased accuracy when initial electronic phenotyping results were erroneous (56.67% vs 80.00%, N=55, p=0.07). Electronic phenotyping results provided the greatest benefit for the accurate identification of rare exclusion criteria.
Discussion: Single-reviewer chart review of electronic phenotyping can be conducted more accurately, quickly, and at lower cost when supported by electronic phenotyping results. However, human reviewers tend to agree with electronic phenotyping results even when those results are wrong. Thus, the value of providing electronic phenotyping results depends on the accuracy of the underlying electronic phenotyping algorithm.
Conclusion: We recommend using a mix of phenotyping validation strategies, with the balance of strategies based on the anticipated electronic phenotyping error rate, the tolerance for missed electronic phenotyping errors, as well as the expertise, cost, and availability of personnel involved in chart review and discrepancy adjudication.
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http://dx.doi.org/10.1016/j.jbi.2016.12.004 | DOI Listing |
Genet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.
View Article and Find Full Text PDFBMC Microbiol
December 2024
Department of Clinical Microbiology, Zibo City Key Laboratory of Respiratory Infection and Clinical Microbiology, Zibo Municipal Hospital, Zibo, 255400, China.
Background: Klebsiella pneumoniae bloodstream infection (KP BSI) is a severe clinical condition characterized by high mortality rates. Despite the clinical significance, accurate predictors of mortality in KP BSI have yet to be fully identified.
Methods: A retrospective analysis was conducted on the clinical data of 90 cases of KP BSI.
Cancer Lett
December 2024
Department of Medical Oncology, the First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China, 310003. Electronic address:
Triple-negative breast cancer (TNBC) represents the most aggressive subtype of breast cancer, lacking effective targeted therapies and presenting with a poor prognosis. In this study, we utilized the epigenomic landscape, TCGA database, and clinical samples to uncover the pivotal role of HJURP in TNBC. Our investigation revealed a strong correlation between elevated HJURP expression and unfavorable prognosis, metastatic progression, and late-stage of breast cancer.
View Article and Find Full Text PDFJ Genet Genomics
December 2024
Institute of Genetics and Developmental Biology, Key Laboratory of Seed Innovation, Chinese Academy of Sciences, Beijing 100101, China. Electronic address:
Saline-alkali soil severely reduces the productivity of crops, including maize (Zea mays). Although several genes associated with saline-alkali tolerance have been identified in maize, the underlying regulatory mechanism remains elusive. Here, we report a direct link between colonization by arbuscular mycorrhizal fungi (AMF) and saline-alkali tolerance in maize.
View Article and Find Full Text PDFProg Neuropsychopharmacol Biol Psychiatry
December 2024
Tianjin Fourth Central Hospital, The Affiliated Hospital of Tianjin Medical University, Tianjin 300140, China. Electronic address:
Background: The mechanisms underlying the complex relationship between autoimmune hypothyroidism and neurological disorders remain unclear. We conducted a comprehensive analysis of associations between alternative splicing, transcriptomics, and proteomics data and autoimmune hypothyroidism.
Methods: Splicing-Wide association studies (SWAS), proteome-wide association studies (PWAS), and transcriptome-wide association studies (TWAS) were used to identify genes and proteins that regulate autoimmune hypothyroidism within the brain axis.
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