Evidence map›Paper›PMID 35365675›Full record

ArticleNPJ Parkinson's disease2022

Multi-modality machine learning predicting Parkinson's disease.

Mary B Makarious, Hampton L Leonard, Dan Vitale, Hirotaka Iwaki, Lana Sargent, Anant Dadu, Ivo Violich, Elizabeth Hutchins, David Saffo, Sara Bandres-Ciga and 17 more

Open access · goldAbstract read
In one paragraph

Article in NPJ Parkinson's disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
73citing papers in PubMed, 4 pooled it
16.4field-weighted citation impact, top 1% of its field
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

73 citing papers in PubMed, 4 syntheses or guidelines pooled it, 146 citations in OpenAlex.

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13 more citing papers are in PubMed but not listed here.

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

27 authors at 8 institutions in 5 countries.

Mary B MakariousLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-7978-1051
Hampton L LeonardLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Dan VitaleCenter for Alzheimer's and Related Dementias, National Institutes of Health, Bethesda, MD, USA.
Hirotaka IwakiLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Lana SargentLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Anant DaduDepartment of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
Ivo ViolichInstitute of Translational Genomics, University of Southern California, Los Angeles, CA, USA.
Elizabeth HutchinsNeurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ, USA.
David SaffoKhoury College of Computer Sciences, Northeastern University, Boston, MA, USA.
Sara Bandres-CigaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Jonggeol Jeff KimLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Yeajin SongLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Melina MalekniaGeorgia Institute of Technology, Atlanta, GA, USA.
Matt BookmanVerily Life Sciences, South San Francisco, CA, USA.
Willy NojopranotoVerily Life Sciences, South San Francisco, CA, USA.
Roy H CampbellDepartment of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.ORCID http://orcid.org/0000-0002-3754-7777
Sayed Hadi HashemiDepartment of Computer Science, University of Illinois at Urbana-Champaign, Urbana, IL, USA.
Juan A BotiaDepartment of Molecular Neuroscience, UCL Queen Square Institute of Neurology, London, UK.
John F CarterModelOp, Chicago, IL, USA.
David W CraigInstitute of Translational Genomics, University of Southern California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-2040-1955
Kendall Van Keuren-JensenNeurogenomics Division, Translational Genomics Research Institute (TGen), Phoenix, AZ, USA.
Huw R MorrisDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.ORCID http://orcid.org/0000-0002-5473-3774
John A HardyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.
Cornelis BlauwendraatLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-9358-8111
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0001-5606-700X
Faraz FaghriLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. faraz@datatecnica.com.ORCID http://orcid.org/0000-0001-5744-8728
Mike A NallsLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. mike@datatecnica.com.
National Institutes of Health · USUniversity of Illinois Urbana-Champaign · USNational Hospital for Neurology and Neurosurgery · GBTranslational Genomics Research Institute · USUniversity of Southern California · USGeorgia Institute of Technology · USNortheastern University · USUK Dementia Research Institute · GB

Funding

Harmonized Data-Derived Resources for the Alzheimer's Disease and Related Dementias CommunityZIAAG000534 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2019 to 2025
$85.1M
NINDS Biomarker RepositoryU24NS095871 · NINDS · INDIANA UNIVERSITY INDIANAPOLIS · PI TATIANA M. FOROUD · 2015 to 2026
$18.3M
Large Scale Biomarker Discovery and Validation for Parkinsons DiseaseU01NS082137 · NINDS · UNIVERSITY OF WASHINGTON · PI ZHANG, JING · 2012 to 2016
$6.0M
Multimodal MRI Markers of Nigrostriatal Pathology in Parkinson's DiseaseU01NS082151 · NINDS · PENNSYLVANIA STATE UNIV HERSHEY MED CTR · PI HUANG, XUEMEI · 2012 to 2016
$4.2M
Johns Hopkins Medicine Biomarker Discovery in Parkinson's DiseaseU01NS082133 · NINDS · JOHNS HOPKINS UNIVERSITY · PI DAWSON, TED M. · 2012 to 2016
$4.1M
Diagnostic and prognostic biomarkers for Parkinsons diseaseU01NS082148 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI DEWEY, RICHARD B, GERMAN, DWIGHT C. · 2012 to 2016
$3.0M
Genome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6M
Biomarkers for early intervention in Parkinson diseaseU01NS082157 · NINDS · BRIGHAM AND WOMEN'S HOSPITAL · PI SCHERZER, CLEMENS R · 2012 to 2016
$2.5M
Unbiased Approaches to Novel Biomarker Discovery in Parkinson's DiseaseU01NS082134 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI CHEN-PLOTKIN, ALICE S · 2012 to 2016
$1.8M
Intramural NIH HHS Z01 AG000949Medical Research Council G0701075Medical Research Council G0901254NINDS NIH HHS U01 NS082133NINDS NIH HHS U01 NS082134NINDS NIH HHS U01 NS082137NINDS NIH HHS U01 NS082148NINDS NIH HHS U01 NS082151NINDS NIH HHS U01 NS082157NINDS NIH HHS U24 NS095871
6 · The paper itself

Abstract

Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deliver multimodal predictions of Parkinson's disease (PD) risk and systematically develop a model using GenoML, an automated ML package, to make improved multi-omic predictions of PD, validated in an external cohort. We investigated top features, constructed hypothesis-free disease-relevant networks, and investigated drug-gene interactions. We performed automated ML on multimodal data from the Parkinson's progression marker initiative (PPMI). After selecting the best performing algorithm, all PPMI data was used to tune the selected model. The model was validated in the Parkinson's Disease Biomarker Program (PDBP) dataset. Our initial model showed an area under the curve (AUC) of 89.72% for the diagnosis of PD. The tuned model was then tested for validation on external data (PDBP, AUC 85.03%). Optimizing thresholds for classification increased the diagnosis prediction accuracy and other metrics. Finally, networks were built to identify gene communities specific to PD. Combining data modalities outperforms the single biomarker paradigm. UPSIT and PRS contributed most to the predictive power of the model, but the accuracy of these are supplemented by many smaller effect transcripts and risk SNPs. Our model is best suited to identifying large groups of individuals to monitor within a health registry or biobank to prioritize for further testing. This approach allows complex predictive models to be reproducible and accessible to the community, with the package, code, and results publicly available.

Identifiers

PMID35365675
PMCPMC8975993
OpenAlexW4226256732

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.