Evidence map›Paper›PMID 41298473›Full record

ArticleNature communications2025

Genetics and context for precision health in Greater Boston.

Satoshi Koyama, Ying Wang, Kaavya Paruchuri, Md Mesbah Uddin, So Mi J Cho, Sarah M Urbut, Yang Sui, Akl C Fahed, Himani Kamineni, Sara Haidermota and 11 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Genetic Prediction of Circulating Lipoprotein(a) Levels in Diverse Populations.medRxiv : the preprint server for health sciences · 2026
    Article
  12. Review
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

21 authors.

Satoshi KoyamaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-9286-0360
Ying WangProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0001-7808-6279
Kaavya ParuchuriProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1228-1674
Md Mesbah UddinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1846-0411
So Mi J ChoProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-2460-3335
Sarah M UrbutProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-1135-9647
Yang SuiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Akl C FahedProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Himani KamineniProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0009-0005-0863-5064
Sara HaidermotaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Whitney E HornsbyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Robert C GreenHarvard Medical School, Boston, MA, USA.ORCID 0000-0001-8472-0424
Mark J DalyAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-0949-8752
Benjamin M NealeProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0003-1513-6077
Patrick T EllinorProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-2067-0533
Jordan W SmollerStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-0381-6334
Susan A SlaugenhauptCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0001-7958-6494
Matthew S LeboHarvard Medical School, Boston, MA, USA.ORCID 0000-0002-9733-5207
Elizabeth W KarlsonHarvard Medical School, Boston, MA, USA.
Alicia R MartinProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. armartin@broadinstitute.org.ORCID 0000-0003-0241-3522
Pradeep NatarajanProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. pnatarajan@mgh.harvard.edu.ORCID 0000-0001-8402-7435

Funding

The Broad-LMM-Color Genome Center for All of UsOT2OD002750 · OD · BROAD INSTITUTE, INC. · PI GABRIEL, STACEY, REHM, HEIDI L · 2018 to 2023
$264.7M
Interactive Data Portals and Robust Analytic Tools to Wrap PASC Cohorts (iDRAW) OTA-21-015AOT2HL161841 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI FOULKES, ANDREA S, KARLSON, ELIZABETH W · 2021 to 2024
$182.2M
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
Finding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6M
Joint Biology Consortium Resource-based CenterP30AR070253 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Peter A Nigrovic, Jeffrey Andrew Sparks · 2016 to 2026
$9.4M
Using 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
$7.3M
Return of Genomic Results and Estimating Penetrance in Population-Based CohortsR01HL143295 · NHLBI · BROAD INSTITUTE, INC. · PI CARSON, APRIL P, GREEN, ROBERT C. · 2019 to 2022
$7.2M
Statistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0M
Enabling improved applicability and transferability of polygenic scores across populationsU01HG011719 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Alicia Martin · 2021 to 2026
$5.5M
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy InfantsU01TR003201 · NCATS · BRIGHAM AND WOMEN'S HOSPITAL · PI GREEN, ROBERT C., HOLM, INGRID ADELE · 2021 to 2024
$5.1M
Coronary plaque changes with statin and colchicine among people with high polygenic risk- a mechanistic pilot studyR01HL164629 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Akl C Fahed, Michael TseYin Lu · 2023 to 2026
$3.3M
PsycheMERGE: Leveraging electronic health records and genomics for mental health researchR01MH118233 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DAVIS, LEA K, SMOLLER, JORDAN W · 2019 to 2022
$3.1M
American Heart Association (American Heart Association, Inc.) AHA career Development AwardMassachusetts General Hospital (MGH) MGH Executive Committee for Research Fund for Medical DiscoveryMEXT | Japan Society for the Promotion of Science (JSPS) 202160643NCATS NIH HHS U01 TR003201NHGRI NIH HHS R01 HG009922NHGRI NIH HHS U01 HG008685NHGRI NIH HHS U01 HG011719NHLBI NIH HHS K08 HL161448NHLBI NIH HHS K99 HL169733NHLBI NIH HHS K99 HL177340NHLBI NIH HHS OT2 HL161841NHLBI NIH HHS R01 HL127564NHLBI NIH HHS R01 HL143295NHLBI NIH HHS R01 HL164629NIAMS NIH HHS P30 AR070253NIH HHS OT2 OD002750NIH HHS OT2 OD026553NIMH NIH HHS R00 MH117229NIMH NIH HHS R01 MH118233NIMH NIH HHS R37 MH107649U.S. Department of Health & Human Services | National Institutes of Health (NIH) OT2OD002750U.S. Department of Health & Human Services | National Institutes of Health (NIH) OT2OD026553U.S. Department of Health & Human Services | National Institutes of Health (NIH) P30AR070253U.S. Department of Health & Human Services | National Institutes of Health (NIH) U01HG008685U.S. Department of Health & Human Services | National Institutes of Health (NIH) U01TR003201U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) K08HL161448U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) K99HL169733U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) K99HL177340U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) OT2HL161841U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL127564U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute (NHLBI) R01HL143295U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) R01HG009922U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG008685U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) U01HG011719U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R00MH117229U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R01MH118233U.S. Department of Health & Human Services | NIH | National Institute of Mental Health (NIMH) R37MH107649
6 · The paper itself

Abstract

Mass General Brigham, an integrated healthcare system based in the Greater Boston area of Massachusetts, annually serves 1.5 million patients. We established the Mass General Brigham Biobank (MGBB), currently encompassing 142,238 participants, to unravel the intricate relationships among genomic profiles, environmental context, and disease manifestations within clinical practice. In this manuscript, we described genetic and phenotypic diversity and their interaction in the MGBB by employing population genetics, geospatial assessment, and association analyses of rare and common genetic variants. The population genetic variation captured the demographic histories in the Greater Boston area throughout American history, highlighting communities tied to shared genetic and environmental factors. Furthermore, our phenome-wide association analysis with socioeconomic factors, as well as common and rare genetic variants, prioritized disease causes across a tertiary academic medical center and community-based health system. Our investigation underscores the potency of unbiased, large-scale analyses in a healthcare-affiliated biobank, elucidating the dynamic interplay across genetics, immigration, structural geospatial factors, and health outcomes in one of the earliest American sites of European colonization.

Indexed as

Precision MedicineAdultBiological Specimen BanksBostonFemaleGenetics, PopulationGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedPhenotypeSocioeconomic Factors

Identifiers

PMID41298473
PMCPMC12749686

What OpenQuestion holds

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Registered trials

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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.