ArticleNature genetics2022
A combined polygenic score of 21,293 rare and 22 common variants improves diabetes diagnosis based on hemoglobin A1C levels.
Abstract read
In one paragraph
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Development and validation of a multiancestry and multitrait polygenic risk score for lung cancer.Nature communications · 2026Pooled it
- Polygenic risk scores in human genetics for study design discovery and translation.Human genetics · 2026Review
- The GPCRDiabetologia · 2026Article
- Genetic association and machine learning improve the prediction of type 1 diabetes risk.Nature genetics · 2026Article
- DENND5B disruption results in reduced body fat and increased intestinal fatty acid oxidation by activation of autophagy.Journal of lipid research · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Deep learning-based stratification of Schizophrenia Spectrum Disorder from real-world data reveals distinct profiles of common and rare variant genetic signal.medRxiv : the preprint server for health sciences · 2026Article
- Diabetes: A comprehensive review of the Indian landscape in contrast with global trends.World journal of diabetes · 2026Review
- Gene-centered representation of coding and regulatory variation enables outcome prediction.bioRxiv : the preprint server for biology · 2026Article
- Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol.PloS one · 2026Article
- Studying rare variant polygenic risk scores using whole exome sequencing and imputed genotype data.Communications biology · 2025Article
- Big data and cardiovascular risk-insights into obesity, diabetes, and coronary heart disease.Herz · 2025Review
- Clinical use of polygenic scores in type 2 diabetes: challenges and possibilities.Diabetologia · 2025Review
- Patient perspectives after receiving simulated preconception polygenic risk scores (PRS) for family planning.Journal of assisted reproduction and genetics · 2025Article
- Review
- Whole-exome sequencing association study reveals genetic effects on tumor microenvironment components in nasopharyngeal carcinoma.The Journal of clinical investigation · 2025Article
- Emerging Biomarkers for Assessing Thrombotic Risk in Patients Receiving Direct Oral Anticoagulants (DOACs).Cardiovascular & hematological agents in medicinal chemistry · 2025Review
- Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.Communications medicine · 2024Article
- Characterisation of type 2 diabetes subgroups at diagnosis: the COPERNICAN prospective observational cohort study protocol.BMJ open · 2024Article
- Polygenic prediction for underrepresented populations through transfer learning by utilizing genetic similarity shared with European populations.Briefings in bioinformatics · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Peter DornbosPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
Ryan KoestererPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
Andrew RuttenburgPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
Trang NguyenPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
Joanne B ColePrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-9520-2788
AMP-T2D-GENES Consortium
Aaron LeongPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
James B MeigsPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.
Jose C FlorezPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-1730-9325
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.
Miriam S UdlerPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA.ORCID http://orcid.org/0000-0003-3824-9162
Jason FlannickPrograms in Metabolism Program, Broad Institute, Cambridge, MA, USA. jason.flannick@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-3618-795X
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MThe next iteration of the AMP-T2D Knowledge PortalUM1DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI BOEHNKE, MICHAEL L, BURTT, NOEL P · 2020 to 2025
$18.5MProposal for the AMP T2D-GENES Data Coordination Center and Web PortalU01DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI FLOREZ, JOSE CARLOS · 2015 to 2019
$16.8MCHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MCommon Genetic Variation and Quantitative Diabetes TraitsR01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2008 to 2014
$5.0MIn vivo and in vitro rare coding variant analyses to identify modulations of the adipocyte differentiation pathway that affect T2D riskR01DK125490 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Jason Flannick · 2020 to 2026
$3.9MTOPMed Omics of Type 2 Diabetes and Quantitative TraitsUM1DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MANNING, ALISA KNODLE · 2021 to 2025
$3.8MTOPMed Omics of Cardiovascular Disease in DiabetesR01HL151855 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2020 to 2023
$3.3MClinical Implications of Genetically Defined Diabetes Subtypes and Application to Electronic Health Medical Record SystemsK23DK114551 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI UDLER, MIRIAM SARGON · 2017 to 2021
$1000kMentoring Investigators on the Clinical Translation of Cardiometabolic Genetic DiscoveriesK24HL157960 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI FLOREZ, JOSE CARLOS · 2021 to 2025
$626kExtension of Type 2 Diabetes Genetic Clustering to Populations of non-European AncestryR03DK131249 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI UDLER, MIRIAM SARGON · 2022 to 2023
$252kNCATS NIH HHS UL1 TR001881NHLBI NIH HHS K24 HL157960NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL151855NIDDK NIH HHS K23 DK114551NIDDK NIH HHS K99 DK127196NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK078616NIDDK NIH HHS R01 DK125490NIDDK NIH HHS R03 DK131249NIDDK NIH HHS U01 DK105554NIDDK NIH HHS UM1 DK078616NIDDK NIH HHS UM1 DK105554
Abstract
Polygenic scores (PGSs) combine the effects of common genetic variants
Indexed as
Diabetes Mellitus, Type 2Multifactorial InheritanceGenome-Wide Association StudyGlycated HemoglobinHumansPrecision MedicineGlycated Hemoglobin
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.