Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Phenotype definition for genetic studies

J P Rice1

  • 1Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110.

European Archives of Psychiatry and Clinical Neuroscience
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Generalized Electrical Substitution Methods and Detectors for Absolute Optical Power Measurements.

Metrologia·2023
Same author

Development of electrical substitution Fourier transform spectrometry for absolute optical power measurements.

Optics express·2021
Same author

Genome-wide association study identifies a novel locus for cannabis dependence.

Molecular psychiatry·2017
Same author

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability.

Molecular psychiatry·2017
Same author

Genetic effects influencing risk for major depressive disorder in China and Europe.

Translational psychiatry·2017
Same author

Spectrally Tunable Sources for Advanced Radiometric Applications.

Journal of research of the National Institute of Standards and Technology·2016
Same journal

Major depressive disorder-alcohol use disorder comorbidity: diagnosis, mechanisms and treatment.

European archives of psychiatry and clinical neuroscience·2026
Same journal

The interplay between mental health, ecological factors, and problematic smartphone use: a network analysis in adolescents with major depressive disorder.

European archives of psychiatry and clinical neuroscience·2026
Same journal

The monocyte-to-HDL cholesterol ratio (MHR) modifies the association between dietary patterns and depression: a sex-specific analysis.

European archives of psychiatry and clinical neuroscience·2026
Same journal

Ictal electroencephalography and heart rate as treatment criteria in electroconvulsive therapy: a systematic review of the literature.

European archives of psychiatry and clinical neuroscience·2026
Same journal

Esketamine multi-omic biomarker evaluation in major depressive disorder (EMBER-MDD): concept, objectives and methodologies of a non-clinical investigator-initiated study.

European archives of psychiatry and clinical neuroscience·2026
Same journal

Differential burden of five major mental disorders in the United States across the COVID-19 pandemic.

European archives of psychiatry and clinical neuroscience·2026
See all related articles

Estimating mental disorder stability is challenging without a gold standard. This study introduces a model using clinical covariates to improve diagnostic reliability and estimate true case likelihood, aiding genetic research.

Area of Science:

  • Psychiatry
  • Psychometrics
  • Genetics

Background:

  • Reliability and stability of lifetime mental disorder diagnoses are difficult to interpret due to the absence of a theoretical framework and a "gold standard" for validation.
  • Traditional models estimating diagnostic accuracy (sensitivity, specificity, true base rate) are limited as only two of these three unknowns can typically be estimated.

Purpose of the Study:

  • To extend diagnostic reliability models by incorporating clinical covariates to improve the estimation of sensitivity, specificity, and true base rate.
  • To calculate the likelihood of an observed case being a true case based on covariate levels.
  • To explore the implications of diagnostic error for genetic models and propose methods to mitigate its impact.

Main Methods:

  • Developed an extended model incorporating clinical covariates to predict the likelihood of a positive diagnosis at Time 2 given a positive diagnosis at Time 1.

Related Experiment Videos

  • Assumed that observed cases with the highest covariate values represent true cases to directly estimate sensitivity.
  • Applied the model to stability data from 1,629 relatives assessed over a 6-year interval within the NIMH Psychobiology of Depression Program, using a logistic function to model affective disorder stability.

    • Main Results:

    • The extended model successfully estimated all diagnostic unknowns (sensitivity, specificity, true base rate) by utilizing clinical covariates.
    • The likelihood of an observed case being a true case was calculated based on specific covariate levels.
    • The study demonstrated how diagnostic error impacts genetic model fitting and proposed strategies to enhance genetic analyses.

    Conclusions:

    • Incorporating clinical covariates significantly enhances the reliability and stability assessment of lifetime mental disorder diagnoses.
    • The developed methods provide a more accurate estimation of diagnostic certainty, crucial for understanding the genetic underpinnings of mental disorders.
    • Utilizing ordinal phenotypes, multiple assessments, and clinical covariates can minimize diagnostic error and increase the power of genetic studies in psychiatry.