ReviewGenome medicine2024
Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.
Review in Genome medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis 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
70 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Weighing the evidence on costs and benefits of polygenic risk-based approaches in clinical practice: A systematic review of economic evaluations.American journal of human genetics · 2025Pooled it
- Post-genome-wide association study variant-to-function challenges in asthma research.The Journal of allergy and clinical immunology · 2026Review
- Considering social risk alongside genetic risk for bipolar disorder in the All of Us Research Program.HGG advances · 2026Article
- Pervasive context-dependent effects in the genetic architecture of complex and quantitative traits revealed by a powerful multiparent mapping population in yeast.PLoS genetics · 2026Article
- Pervasive interactions between exposures and polygenic risk can inform more effective clinical and behavioral interventions.Nature genetics · 2026Article
- From GWAS Signals to Molecular Mechanisms: Explainable AI for Causal Gene Prioritization and Biomolecular Target Interpretation.Biomolecules · 2026Review
- ProLM: a plasma proteomics pretrained model for the general population.Nature communications · 2026Article
- A mixed-methods exploration of stakeholder experiences and perspectives on integrating polygenic breast cancer risk scores into Swedish clinical practice.BMC health services research · 2026Article
- Prognostic impact of somatic mutations among patients with pleural and peritoneal mesothelioma.NPJ precision oncology · 2026Article
- DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations.American journal of human genetics · 2026Article
- Polygenic risk scores in clinical applications - opportunities and challenges.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Incorporating dietary information to enhance polygenic prediction models with applications to body mass index and type 2 diabetes.Genes & nutrition · 2026Article
- Are polygenic scores for psychiatric and substance use outcomes "ready" for clinical application? Current state and next steps.Psychiatric genetics · 2026Review
- Clinical, Dietary, Lifestyle and Genetic Factors Associated With Age at Onset of Esophageal Adenocarcinoma.United European gastroenterology journal · 2026Article
- Clinical usefulness of polygenic risk scores in risk prediction models for lung cancer screening and lung nodule management.Translational oncology · 2026Article
- Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences.BMJ open · 2026Article
- Supplementing Disease Risk Information for Type 2 Diabetes and Coronary Heart Disease with Polygenic Risk Scores: Testing a Health Action Process Approach-Inspired Path Model to Predict Health Behavior.International journal of behavioral medicine · 2026Article
- Associations of vegetarianism with circulating lipids across varying genetic capacity: a cross-sectional Polygenic Score-by-Vegetarianism interaction study in UK Biobank.medRxiv : the preprint server for health sciences · 2026Article
- Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.medRxiv : the preprint server for health sciences · 2026Article
- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
10 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
7 authors.
Funding
Abstract
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review the latest potential benefits of PGS in the clinic and challenges to implementation. PGS could augment risk stratification through combined use with traditional risk factors (demographics, disease-specific risk factors, family history, etc.), to support diagnostic pathways, to predict groups with therapeutic benefits, and to increase the efficiency of clinical trials. However, there exist challenges to maximizing the clinical utility of PGS, including FAIR (Findable, Accessible, Interoperable, and Reusable) use and standardized sharing of the genomic data needed to develop and recalculate PGS, the equitable performance of PGS across populations and ancestries, the generation of robust and reproducible PGS calculations, and the responsible communication and interpretation of results. We outline how these challenges may be overcome analytically and with more diverse data as well as highlight sustained community efforts to achieve equitable, impactful, and responsible use of PGS in healthcare.
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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.