ReviewAnnual review of biomedical data science2022
Challenges and Opportunities for Developing More Generalizable Polygenic Risk Scores.
Review in Annual review of biomedical data science, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 3 of them syntheses that pooled it.
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
120 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Human genetic diversity across South Asian populations: A systematic review and meta-analysis.Medicine · 2025Pooled it
- Applications and challenges of biomarker-based predictive models in proactive health management.Frontiers in public health · 2025Pooled it
- Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks.PLoS genetics · 2023Pooled it
- Impact of Genetic Predisposition to Obesity on Long-Term Maintenance of Modest Weight Loss in Postmenopausal Women.Obesity (Silver Spring, Md.) · 2026Trial
- Primary care physician use of patient race and polygenic risk scores in medical decision-making.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Trial
- Student-teacher relationships as a mediator of children's education-linked genetics: results from the Norwegian Mother, Father and Child Cohort Study.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- From genes to environment: A life-course approach to prevent pediatric autoimmune diseases.World journal of clinical pediatrics · 2026Review
- Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion.Molecular psychiatry · 2026Article
- Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions.Nature genetics · 2026Article
- Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease in theCirculation. Genomic and precision medicine · 2026Article
- Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- Ancestry-Calibrated Polygenic Risk Scores Predict PTSD Trajectories in Recent Trauma Survivors and Interact with Neighborhood Resources.medRxiv : the preprint server for health sciences · 2026Article
- Genetic analysis of imaging-derived phenotypes.Nature reviews. Genetics · 2026Review
- Genetic architecture of multiple myeloma: From somatic alterations to germline susceptibility and clinical implications.Translational oncology · 2026Review
- Linking the exposome to the brain-behaviour phenotype.Nature reviews. Neuroscience · 2026Review
- Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Associations among discrimination, genetic susceptibility to inflammation, and C-reactive protein.Brain, behavior, & immunity - health · 2026Article
- Breast cancer polygenic risk score performance varies by socioeconomic status.medRxiv : the preprint server for health sciences · 2026Article
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and diseases by aggregating information across multiple genetic variants identified from genome-wide association studies. PRS can predict a broad spectrum of diseases and have therefore been widely used in research settings. Some work has investigated their potential applications as biomarkers in preventative medicine, but significant work is still needed to definitively establish and communicate absolute risk to patients for genetic and modifiable risk factors across demographic groups. However, the biggest limitation of PRS currently is that they show poor generalizability across diverse ancestries and cohorts. Major efforts are underway through methodological development and data generation initiatives to improve their generalizability. This review aims to comprehensively discuss current progress on the development of PRS, the factors that affect their generalizability, and promising areas for improving their accuracy, portability, and implementation.
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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 OpenQuestion graph.