Related Experiment Video
Updated: Jun 14, 2025

09:37
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Published on: August 15, 2019
9.7K
A Generalized Tool to Assess Algorithmic Fairness in Disease Phenotype Definitions
Jacob S Zelko1, Justin Manjourides2,2
1Department of Mathematics, Northeastern University, Boston, MA, USA.
Summary
Ensuring accurate patient population definitions is crucial for reliable observational studies. This research introduces a tool to assess the fairness of disease definitions across diverse demographic groups, promoting equitable research practices.
Area of Science:
- Health Informatics
- Epidemiology
- Biostatistics
Background:
- Reliable observational studies depend on accurate patient population definitions.
- Standardizing and implementing disease definitions across datasets presents significant challenges.
- Ensuring fair representation of diverse demographic dynamics within patient populations is essential to avoid overgeneralization.
Purpose of the Study:
- To present a generalized tool for assessing the fairness of disease definitions.
- To evaluate the implementation of disease definitions using common fairness metrics.
- To provide a robust method for examining population fairness across various characteristics.
Main Methods:
- Developed a generalized tool to evaluate disease definition fairness.
- Calculated fairness metrics to assess population representation.
- Examined coarse and strongly intersecting populations across multiple demographic characteristics.
- Utilized an OMOP Common Data Model (CDM) patient database for an example analysis.
Main Results:
- Demonstrated a method for assessing fairness in disease definition implementation.
- Highlighted practical workflows for applying the fairness assessment tool.
- Provided an example analysis showcasing the tool's utility on real-world data.
Conclusions:
- The developed tool offers a robust approach to evaluating the fairness of disease definitions.
- This work facilitates more equitable and accurate patient population representation in observational research.
- Future research can further refine the tool and expand its application to broader health data contexts.
Related Concept Videos
Pedigree Analysis
84.1K
Overview
84.1K
Genome-wide Association Studies-GWAS
13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.2K
Genetic Screens
4.9K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
4.9K
Incomplete Dominance
22.1K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.1K

