Evidence map›Paper›PMID 41358313›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.

Katie Taylor, Alicia Huerta-Chagoya, Xiaoyu Wang, Maheak Vora, Jiang Li, Lehte Turk, Teng Hiang Heng, Joohyun Kim, Andres Moreno-Estrada, Teresa Tusie-Luna and 14 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Katie TaylorPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.
Alicia Huerta-ChagoyaPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.
Xiaoyu WangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Maheak VoraPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.
Jiang LiDepartment of Genomic Health, Geisinger, Danville, PA, USA.ORCID 0000-0002-7006-1285
Lehte TurkEstonian Genome Center, Institute of Genomics, University of Tartu, Estonia.
Teng Hiang HengWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
Joohyun KimVanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Andres Moreno-EstradaAging Research Center, Cinvestav Sede Sur, Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico.
Teresa Tusie-LunaUnidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Carlos Aguilar-SalinasUnidad de Investigación de Enfermedades Metabólicas, Research Direction of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Maggie NgVanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Hilary C MartinWellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.
David A van HeelBlizard Institute, Queen Mary University of London, London, UK.ORCID 0000-0002-0637-2265
Genes & Health Research Team
Alisa ManningPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.ORCID 0000-0003-0247-902X
David CareyDepartment of Genomic Health, Geisinger, Danville, PA, USA.
Priit PaltaEstonian Genome Center, Institute of Genomics, University of Tartu, Estonia.ORCID 0000-0001-9320-7008
Mitja I KurkiPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.
Sarah FinerWolfson Institute of Population Health, Queen Mary University of London, London, UK.
Tian GeStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Uyenlinh L MirshahiDepartment of Genomic Health, Geisinger, Danville, PA, USA.ORCID 0000-0003-4972-5451
Haoyu ZhangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Josep M MercaderDiabetes Unit, Massachusetts General Hospital, Boston, MA, 2114, USA.ORCID 0000-0001-8494-3660

Funding

Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7M
Precision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5M
Enhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7M
Adaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6M
University of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9M
California Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4M
All of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1M
New York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3M
SouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8M
Southern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5M
Illinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5M
The New England Precision Medicine Consortium of the All of Us Research ProgramOT2OD026553 · OD · MASSACHUSETTS GENERAL HOSPITAL · PI CLARK, CHERYL RENEE, KARLSON, ELIZABETH W · 2018 to 2023
$58.8M
NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA063464NCI NIH HHS R37 CA054281NCI NIH HHS U01 CA063464NCI NIH HHS U01 CA164973NCI NIH HHS UM1 CA164973NHGRI NIH HHS U01 HG011723NIA NIH HHS R01 AG033067NIDDK NIH HHS K23 DK114551NIDDK NIH HHS K24 DK080140NIDDK NIH HHS K24 DK110550NIDDK NIH HHS L30 DK106874NIDDK NIH HHS R01 DK098032NIDDK NIH HHS R01 DK137993NIDDK NIH HHS R01 DK140545NIDDK NIH HHS U01 DK105535NIDDK NIH HHS U01 DK140757NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196Wellcome Trust
6 · The paper itself

Abstract

Polygenic risk scores (PRSs) can improve type 2 diabetes (T2D) risk prediction beyond clinical risk factors, but most exclude low-frequency, rare, and population-specific variants. We hypothesized that incorporation of rare variants via large-scale, well-imputed or whole-genome sequence-based genome-wide association (GWAS) meta-analyses and expanded linkage disequilibrium (LD) reference panels would improve risk prediction for T2D. We constructed a GWAS meta-analysis (230,675 T2D cases and 991,401 T2D controls), enabling the inclusion of rare variants (minor allele frequency [MAF] range= 1×10

Identifiers

PMID41358313
PMCPMC12676392

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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.