Related Experiment Video
Updated: May 20, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Quantifying multi-ethnic representation in genetic studies of high mortality diseases
Rong Chen1, Joel T Dudley, David Ruau
1Division of Systems Medicine, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA.
Abstract:
Most GWASs were performed using study populations with Caucasian ethnicity or ancestry, and findings from one ethnic subpopulation might not always translate to another. We curated 4,573 genetic studies on 763 human diseases and identified 3,461 disease-susceptible SNPs with genome-wide significance; only 10% of these had been validated in at least two different ethnic populations. SNPs for autoimmune diseases demonstrated the lowest percentage of cross-ethnicity validation. We used the mortality data from the Center for Disease Control and Prevention and identified 19 diseases killing over 10,000 Americans per year that were still lacking publications of even a single cross-ethnic SNP. Fifteen of these diseases had never been studied in large GWAS in non-Caucasian populations, including chronic liver diseases and cirrhosis, leukemia, and non-Hodgkin's lymphoma. Our results demonstrate that diseases killing most Americans are still lacking genetic studies across ethnicities.
Related Concept Videos
Principles of Pharmacogenetics: Types of Genetic Variants
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
What is Population Genetics?
Bias in Epidemiological Studies
Comparing the Survival Analysis of Two or More Groups
Genomics