ArticleNature genetics2018
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
5 registry-linked trialsAbstract read
In one paragraph
Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 5 registered trials, which are not on this map. Cited by 1,714 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
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1,714citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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.
Prediction of Response to GLP-1/GIP Receptor Agonists in Obesity Using Genetic Risk Score and SNP Profiling: A Prospective Cohort Study.
PMID 33567185PMID 35658024PMID 17434869PMID 25471927PMID 25673413PMID 30124842PMID 16415884other papers from this trial
Open the trial in the graphPragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Genetic Risk-Based Atrial Fibrillation Screening
NCT05277116 naactive not recruitingnot on this mapstarted 2022, after this paper: background citation
The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
NCT07039123 naactive not recruitingnot on this mapstarted 2025, after this paper: background citation
Polygenic Risk Score to Optimize Primary Prevention in Intermediate Risk Population (PERSONAL)
Who cites it
1,714 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.Circulation · 2026Pooled it
- Associations Between Polygenic Risk Score for Blood Pressure and Risk of Hypertension in Northeast Asian Individuals.Journal of the American Heart Association · 2026Pooled it
- Global trajectories of polygenic risk score research: a systematic bibliometric review of precision medicine, equity, and clinical translation.Frontiers in medicine · 2026Pooled it
- Baseline Computed Tomography Coronary Angiography and Polygenic Risk Profiles in Adults With Type 2 Diabetes: A Cross-Sectional Analysis From the VOLTAIRE Study.Diabetes, obesity & metabolism · 2026Trial
- Development and pilot testing of a prostate cancer polygenic risk report.BMC medical genomics · 2026Trial
- Polygenic Risk Scores disclosure for cardiovascular prevention: Protocol of the Personalized HeartCare (PHC) trial.PloS one · 2026Trial
- Predicting future risk of type 1 and type 2 diabetes after gestational diabetes mellitus using polygenic scores: a cohort study.Diabetologia · 2026Observational
- Association between polygenic liability to depression and lifetime depression in at-risk adolescents.Molecular psychiatry · 2026Article
- Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population.American heart journal plus : cardiology research and practice · 2026Article
- Prediction of Atrial Fibrillation Risk Through the Integration of Genetic Information and Artificial Intelligence-Based Electrocardiogram Data.Journal of arrhythmia · 2026Article
- Polygenic Score Identifies Athletes at Increased Risk for Slower Recovery After Sport-Related Concussion: A Concussion Assessment, Research, and Education (CARE) Consortium Study.Sports medicine (Auckland, N.Z.) · 2026Article
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- Development and Validation of a Clinical Polygenic Risk Report in U.S.-Based Health Systems for 8 Cardiovascular Conditions.Journal of the American College of Cardiology · 2026Article
- The dark genome in cardiovascular medicine.European heart journal · 2026Review
- Multimodal deep learning enhances genomic risk prediction for cardiometabolic diseases.Briefings in bioinformatics · 2026Article
- Distinguishing different psychiatric disorders using DDx-PRS.Nature genetics · 2026Article
- Monogenic Kidney Disorders as Hidden Drivers of Electrolyte Imbalance and Hypertension.Electrolyte & blood pressure : E & BP · 2026Review
- Beyond LDL-C: Modern Lipid Management for ASCVD Prevention in Primary Care.Cardiology and therapy · 2026Review
- Understanding the Diseased Atria.Physiology (Bethesda, Md.) · 2026Review
- Clinical-genetic predisposition and medium-term outcomes after bariatric surgery: A 5-year validation of the OBEGEN score.Obesity pillars · 2026Article
1,654 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors.
Amit V KheraCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Mark ChaffinCardiovascular Disease Initiative of the Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1234-5562
Krishna G AragamCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Mary E HaasCardiovascular Disease Initiative of the Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Carolina RoselliCardiovascular Disease Initiative of the Broad Institute of Harvard and MIT, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-5267-6756
Seung Hoan ChoiCardiovascular Disease Initiative of the Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Pradeep NatarajanCardiology Division of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8402-7435
Eric S LanderCardiovascular Disease Initiative of the Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Steven A LubitzCardiology Division of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-9599-4866
Patrick T EllinorCardiology Division of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Sekar KathiresanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. skathiresan1@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-6724-032X
Funding
Center for Common Disease GeneticsUM1HG008895 · NHGRI · BROAD INSTITUTE, INC. · PI DALY, MARK JOSEPH, GABRIEL, STACEY · 2016 to 2020
$111.2MIDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MHarvard Clinical and Translational Science CenterKL2TR001100 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2013 to 2017
$8.5MUsing genetic variation to study biology of blood lipids & coronary heart diseaseR01HL127564 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Pradeep Natarajan, Gina Marie Peloso · 2015 to 2026
$7.3MWhole genome sequences in individuals to comprehensively characterize the genetic mechanisms of dyslipidemiasR01HL142711 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Satoshi Koyama, Gina Marie Peloso · 2019 to 2026
$4.7MGenomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3MAFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1MMentoring in Arrhythmia ResearchK24HL105780 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2011 to 2020
$1.2MAtrial Fibrillation: Bridging genetic discovery and clinical associationsK23HL114724 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI LUBITZ, STEVEN A · 2013 to 2017
$893kUnderstanding modifiers of mendelian mutation penetrance using familial hypercholesterolemia as a modelK08HL140203 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI NATARAJAN, PRADEEP · 2018 to 2019
$343kDoris Duke Charitable Foundation 2014105NCATS NIH HHS KL2 TR001100NHGRI NIH HHS UM1 HG008895NHLBI NIH HHS K08 HL140203NHLBI NIH HHS K23 HL114724NHLBI NIH HHS K24 HL105780NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL142711NHLBI NIH HHS T32 HL007208
Abstract
A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation
Indexed as
Genetic Predisposition to DiseaseMultifactorial InheritanceMutationAdultAgedDiseaseFemaleGenome-Wide Association StudyHumansMaleMiddle AgedPolymorphism, Single NucleotideRisk Factors
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Registered trials
NCT07653412ClinicalTrials.gov
NCT04331535ClinicalTrials.gov
NCT04932798ClinicalTrials.gov
NCT05277116ClinicalTrials.gov
NCT07039123ClinicalTrials.gov
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.