An analytic framework for exploring sampling and observation process biases in genome and phenome-wide association studies using electronic health records.

Large-scale association analyses based on observational health care databases such as electronic health records have been a topic of increasing interest in the scientific community. However, challenges due to nonprobability sampling and phenotype misclassification associated with the use of these da...

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Publicado en:Statistics in Medicine Vol. 39; no. 14; pp. 1965 - 1980
Autores principales: Beesley, Lauren J., Fritsche, Lars G., Mukherjee, Bhramar
Formato: equations & formulas research tables/charts Journal Article
Publicado: Wiley-Blackwell 6/30/2020
Acceso en línea:Ver este registro en EBSCOhost
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      dt: 6/30/2020
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      pub: Wiley-Blackwell
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        10.1002/sim.8524
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        atl: An analytic framework for exploring sampling and observation process biases in genome and phenome-wide association studies using electronic health records.
      aug:
        au:
          Beesley, Lauren J.
          Fritsche, Lars G.
          Mukherjee, Bhramar
        affil: Department of Biostatistics, University of Michigan, Ann Arbor Michigan, USA
      sug:
        subj:
          Sequence Analysis
          Phenotype
          Polymorphism, Genetic
          Michigan
          Comparative Studies
          Multicenter Studies
          Evaluation Research
          Validation Studies
      ab: Large-scale association analyses based on observational health care databases such as electronic health records have been a topic of increasing interest in the scientific community. However, challenges due to nonprobability sampling and phenotype misclassification associated with the use of these data sources are often ignored in standard analyses. The extent of the bias introduced by ignoring these factors is not well-characterized. In this paper, we develop an analytic framework for characterizing the bias expected in disease-gene association studies based on electronic health records when disease status misclassification and the sampling mechanism are ignored. Through a sensitivity analysis approach, this framework can be used to obtain plausible values for parameters of interest given summary results from standard analysis. We develop an online tool for performing this sensitivity analysis. Simulations demonstrate promising properties of the proposed method. We apply our approach to study bias in disease-gene association studies using electronic health record data from the Michigan Genomics Initiative, a longitudinal biorepository effort within The University Michigan health system.
      pubtype: Academic Journal
      doctype:
        equations & formulas
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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