ArticleHGG advances2022
Stability of polygenic scores across discovery genome-wide association studies.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- Perinatal Factors and Neuroimaging Changes for Brain Maturation Among Adolescents.JAMA network open · 2026Article
- A decade of discovery: Leveraging genomic data in the ABCD study to illuminate adolescent neurodevelopment.Developmental cognitive neuroscience · 2026Review
- AI-driven integration of genomic and exposome data for cancer risk: the combined risk score (CRS).Human genomics · 2026Review
- Dissecting the Predictive Accuracy of Polygenic Indexes for Behavioral Phenotypes Across Genetic Ancestries.bioRxiv : the preprint server for biology · 2026Article
- Genome-wide association study of periodontitis severity and progression.Journal of periodontology · 2026Article
- Do Common Genetic Factors Underlie Comorbidity Between Migraine and Major Depressive Disorder in Youth?Pediatric neurology · 2025Article
- Dissecting the Predictive Accuracy of Polygenic Indexes for Behavioral Phenotypes Across Genetic Ancestries.Research square · 2025Article
- Low Stability and Specificity of Polygenic Risk Scores for Major Psychiatric Disorders Limit Their Clinical Utility.Biological psychiatry · 2025Article
- All of Us diversity and scale improve polygenic prediction contextually with greatest improvements for under-represented populations.bioRxiv : the preprint server for biology · 2025Article
- Distinguishing clinical and genetic risk factors for suicidal ideation and behavior in a diverse hospital population.Translational psychiatry · 2025Article
- Genetic predisposition for negative affect predicts mental health burden during the COVID-19 pandemic.European archives of psychiatry and clinical neuroscience · 2025Article
- Considerations for the application of polygenic scores to clinical care of individuals with substance use disorders.The Journal of clinical investigation · 2024Review
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Clinical and genetic contributions to medical comorbidity in bipolar disorder: a study using electronic health records-linked biobank data.Molecular psychiatry · 2024Article
- Multimodal Neuroimaging Summary Scores as Neurobiological Markers of Psychosis.Schizophrenia bulletin · 2024Article
- Impact of individual level uncertainty of lung cancer polygenic risk score (PRS) on risk stratification.Genome medicine · 2024Article
- Impact of Copy Number Variants and Polygenic Risk Scores on Psychopathology in the UK Biobank.Biological psychiatry · 2023Article
- Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits.The lancet. Psychiatry · 2022Review
- Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores.Annual review of biomedical data science · 2022Review
- Improving the computation efficiency of polygenic risk score modeling: faster in Julia.Life science alliance · 2022Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
Polygenic scores (PGS) are commonly evaluated in terms of their predictive accuracy at the population level by the proportion of phenotypic variance they explain. To be useful for precision medicine applications, they also need to be evaluated at the individual level when phenotypes are not necessarily already known. We investigated the stability of PGS in European American (EUR) and African American (AFR)-ancestry individuals from the Philadelphia Neurodevelopmental Cohort and the Adolescent Brain Cognitive Development study using different discovery genome-wide association study (GWAS) results for post-traumatic stress disorder (PTSD), type 2 diabetes (T2D), and height. We found that pairs of EUR-ancestry GWAS for the same trait had genetic correlations >0.92. However, PGS calculated from pairs of same-ancestry and different-ancestry GWAS had correlations that ranged from <0.01 to 0.74. PGS stability was greater for height than for PTSD or T2D. A series of height GWAS in the UK Biobank suggested that correlation between PGS is strongly dependent on the extent of sample overlap between the discovery GWAS. Focusing on the upper end of the PGS distribution, different discovery GWAS do not consistently identify the same individuals in the upper quantiles, with the best case being 60% of individuals above the 80th percentile of PGS overlapping from one height GWAS to another. The degree of overlap decreases sharply as higher quantiles, less heritable traits, and different-ancestry GWAS are considered. PGS computed from different discovery GWAS have only modest correlation at the individual level, underscoring the need to proceed cautiously with integrating PGS into precision medicine applications.
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