Evidence map›Paper›PMID 30166544›Full record

ArticleNature communications2018

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.

Jonathan D Mosley, QiPing Feng, Quinn S Wells, Sara L Van Driest, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Wei-Qi Wei, Lea K Davis, Catherine A McCarty and 24 more

Abstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 2 pooled it
–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

11 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Review
  4. Article
  5. Knowledgebase strategies to aid interpretation of clinical correlation research.Journal of the American Medical Informatics Association : JAMIA · 2023
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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

34 authors.

Jonathan D MosleyDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA. jonathan.d.mosley@vanderbilt.edu.
QiPing FengDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Quinn S WellsDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Sara L Van DriestDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.ORCID http://orcid.org/0000-0003-2580-1405
Christian M ShafferDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Todd L EdwardsVanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.ORCID http://orcid.org/0000-0003-4318-6119
Lisa BastaracheBiomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Wei-Qi WeiBiomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Lea K DavisDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.ORCID http://orcid.org/0000-0001-5143-2282
Catherine A McCartyEssentia Institute of Rural Health, Duluth, MN, 55805, USA.
Will ThompsonDepartment of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA.
Christopher G ChuteSchools of Medicine, Public Health, and Nursing, Johns Hopkins University, Baltimore, MD, 21205, USA.
Gail P JarvikDepartment of Medicine (Medical Genetics), University of Washington, Seattle, WA, 98195, USA.
Adam S GordonDepartment of Medicine (Medical Genetics), University of Washington, Seattle, WA, 98195, USA.
Melody R PalmerDepartment of Medicine (Medical Genetics), University of Washington, Seattle, WA, 98195, USA.
David R CrosslinDepartments of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, 98195, USA.
Eric B LarsonDepartment of Medicine (Medical Genetics), University of Washington, Seattle, WA, 98195, USA.
David S CarrellKaiser Permanente Washington Health Research Institute, Seattle, WA, 98101, USA.
Iftikhar J KulloDepartment of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, 55905, USA.
Jennifer A PachecoCenter for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, 60611, USA.ORCID http://orcid.org/0000-0001-8021-5818
Peggy L PeissigBiomedical Informatics Research Center, Marshfield Clinic Research Institute, Marshfield, WI, 54449, USA.
Murray H BrilliantCenter for Human Genetics, Marshfield Clinic Research Institute, Marshfield, WI, 54449, USA.
James G LinnemanBiomedical Informatics Research Center, Marshfield Clinic Research Institute, Marshfield, WI, 54449, USA.
Bahram NamjouCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger Health System, Danville, PA, 17822, USA.
Marylyn D RitchieBiomedical and Translational Informatics, Geisinger Health System, Danville, PA, 17822, USA.ORCID http://orcid.org/0000-0002-1208-1720
Kenneth M BorthwickBiomedical and Translational Informatics, Geisinger Health System, Danville, PA, 17822, USA.
Shefali S VermaBiomedical and Translational Informatics, Geisinger Health System, Danville, PA, 17822, USA.
Jason H KarnesDepartment of Pharmacy Practice and Science, University of Arizona College of Pharmacy, Tucson, Arizona, 85721, USA.
Scott T WeissChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Thomas J WangBiomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
C Michael SteinDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Josh C DennyDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.
Dan M RodenDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.

Funding

Vanderbilt Institute for Clinical and Translational Research (VICTR) -Identifying correlates of functional immunity in SARS-CoV-2 convalescent plasmaUL1TR002243 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Paul A. Harris, Wesley H Self · 2017 to 2026
$130.7M
VANDERBILT UNIVERSITY CTSA FOR PEDIATRIC RESEARCHUL1RR024975 · NCRR · VANDERBILT UNIVERSITY · PI BERNARD, GORDON RAPHAEL · 2007 to 2011
$45.7M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Pharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4M
Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
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
Variation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4M
Understanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PHILLIPS, ELIZABETH, RODEN, DAN M · 2015 to 2019
$13.0M
CLINICAL PHARMACOLOGY TRAINING PROGRAMT32GM007569 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Bjorn C Knollmann · 1985 to 2026
$12.4M
The Genetic Epemiology of Multiple SclerosisR01NS032830 · NINDS · VANDERBILT UNIVERSITY · PI HAINES, JONATHAN L · 1995 to 2010
$8.9M
American Heart Association (American Heart Association, Inc.) 15MCPRP25620006American Heart Association-American Stroke Association 16FTF30130005NCATS NIH HHS KL2 TR000446NCATS NIH HHS UL1 TR000445NCATS NIH HHS UL1 TR002243NCRR NIH HHS S10 RR025141NCRR NIH HHS UL1 RR024975NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01 HG004424NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004798NHGRI NIH HHS U01 HG006375NHGRI NIH HHS U01 HG006378NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG006380NHGRI NIH HHS U01 HG006382NHGRI NIH HHS U01 HG006385NHGRI NIH HHS U01 HG006388NHGRI NIH HHS U01 HG006389NHGRI NIH HHS U01 HG006830NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008685NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS R01 HL133786NHLBI NIH HHS U19 HL065962NICHD NIH HHS R01 HD074711NIGMS NIH HHS P50 GM115305NIGMS NIH HHS R01 GM120523NIGMS NIH HHS RC2 GM092618NIGMS NIH HHS T32 GM007569NINDS NIH HHS R01 NS032830NLM NIH HHS R01 LM010685
6 · The paper itself

Abstract

Defining the full spectrum of human disease associated with a biomarker is necessary to advance the biomarker into clinical practice. We hypothesize that associating biomarker measurements with electronic health record (EHR) populations based on shared genetic architectures would establish the clinical epidemiology of the biomarker. We use Bayesian sparse linear mixed modeling to calculate SNP weightings for 53 biomarkers from the Atherosclerosis Risk in Communities study. We use the SNP weightings to computed predicted biomarker values in an EHR population and test associations with 1139 diagnoses. Here we report 116 associations meeting a Bonferroni level of significance. A false discovery rate (FDR)-based significance threshold reveals more known and undescribed associations across a broad range of biomarkers, including biometric measures, plasma proteins and metabolites, functional assays, and behaviors. We confirm an inverse association between LDL-cholesterol level and septicemia risk in an independent epidemiological cohort. This approach efficiently discovers biomarker-disease associations.

Indexed as

Electronic Health RecordsBayes TheoremBiomarkersCholesterol, LDLGenome-Wide Association StudyHumansProspective StudiesRisk FactorsBiomarkersCholesterol, LDL

Identifiers

PMID30166544
PMCPMC6117367

What OpenQuestion holds

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LicenceCC BY
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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.