ReviewHuman genetics2024
Methodologies underpinning polygenic risk scores estimation: a comprehensive overview.
Review in Human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed.
- PGS-GS: a framework integrating polygenic scores and genomic selection in animal breeding.Briefings in bioinformatics · 2026Article
- Integrating Polygenic Risk and Ocular Phenotyping Reveals an Axial-Length-Dominant Mechanism in High and Extreme High Myopia.Ophthalmology science · 2026Article
- Polygenic risk scores and Parkinson's disease in South Africa advancing ancestry informed disease prediction.PLoS genetics · 2026Article
- Clinical use of polygenic risk scores: current status, barriers and future directions.Nature reviews. Genetics · 2026Review
- KANN: estimation of genetic ancestry profiles by nearest neighbor regression.Nucleic acids research · 2026Article
- Forensic genetics in the omics era.Nature reviews. Genetics · 2026Review
- Review
- Improving performance of polygenic risk scores for hypertension across two ancestry groups.PloS one · 2026Article
- Polygenic Risk and Exposure Severity Predict Trajectories of PTSD: A Prospective Cohort Study.Molecular psychiatry · 2026Article
- Innovations in Meta-Analytic and Computational Methods in the Neuroscientific Investigation of Psychiatric and Neurological Disorders.Brain sciences · 2025Review
- Linking Personality Traits to Mediterranean Diet Adherence and Exploring Gene-Diet Interactions in Neuroticism.Nutrients · 2025Article
- Improving polygenic risk score based drug response prediction using transfer learning.NPJ genomic medicine · 2025Article
- Improving performance of polygenic risk scores for hypertension across two ancestry groups.medRxiv : the preprint server for health sciences · 2025Article
- Development and Validation of Polygenic Scores for Retinal Vessel Calibers.Investigative ophthalmology & visual science · 2025Article
- Polygenic risk scores and Parkinson's disease in South Africa: Moving towards ancestry-informed disease prediction.medRxiv : the preprint server for health sciences · 2025Article
- Inherited Susceptibility to Cancer: Past, Present and Future.Annals of human genetics · 2025Review
- A survey on deep learning for polygenic risk scores.Briefings in bioinformatics · 2025Review
- Instrumenting Carotid Sonography Biomarkers and Polygenic Risk Score As a Novel Screening Approach for Retinal Detachment.Translational vision science & technology · 2025Article
- Ancestry gaps in cardiovascular GWAS: a multi-database review of African representation in genomic studies.Frontiers in genetics · 2025Review
- Posttransplantation diabetes mellitus (PTDM): pharmacological aspects and genetic predispositions.Pharmacogenomics · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
Polygenic risk scores (PRS) have emerged as a promising tool for predicting disease risk and treatment outcomes using genomic data. Thousands of genome-wide association studies (GWAS), primarily involving populations of European ancestry, have supported the development of PRS models. However, these models have not been adequately evaluated in non-European populations, raising concerns about their clinical validity and predictive power across diverse groups. Addressing this issue requires developing novel risk prediction frameworks that leverage genetic characteristics across diverse populations, considering host-microbiome interactions and a broad range of health measures. One of the key aspects in evaluating PRS is understanding the strengths and limitations of various methods for constructing them. In this review, we analyze strengths and limitations of different methods for constructing PRS, including traditional weighted approaches and new methods such as Bayesian and Frequentist penalized regression approaches. Finally, we summarize recent advances in PRS calculation methods development, and highlight key areas for future research, including development of models robust across diverse populations by underlining the complex interplay between genetic variants across diverse ancestral backgrounds in disease risk as well as treatment response prediction. PRS hold great promise for improving disease risk prediction and personalized medicine; therefore, their implementation must be guided by careful consideration of their limitations, biases, and ethical implications to ensure that they are used in a fair, equitable, and responsible manner.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.