Evidence map›Paper›PMID 39261665›Full record

ArticleNature genetics2024

Disease prediction with multi-omics and biomarkers empowers case-control genetic discoveries in the UK Biobank.

Manik Garg, Marcin Karpinski, Dorota Matelska, Lawrence Middleton, Oliver S Burren, Fengyuan Hu, Eleanor Wheeler, Katherine R Smith, Margarete A Fabre, Jonathan Mitchell and 7 more

Abstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 1 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

67 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Endocrine-Metabolic Crosstalk Between Diabetes Mellitus and Hypothyroidism: From Network Mechanisms to Translational Stratification.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Review
  3. Explainable Plasma Proteomics-Based Machine Learning for Osteoporosis Diagnosis, Prognosis, and Protein Biomarker Discovery in the UK Biobank.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026
    Article
  4. Article
  5. Best practices for using biological data in psychological research.Journal of mood and anxiety disorders · 2026
    Review
  6. Review
  7. Review
  8. An introduction to polygenic scores - methodological basics and recent advances.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Observational
  17. Review
  18. Article
  19. Potential value streams of an integrated Canadian serosurveillance network.Canadian journal of public health = Revue canadienne de sante publique · 2026
    Article
  20. Article

7 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

17 authors.

Manik Garg *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0003-0453-2058
Marcin Karpinski *Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Dorota MatelskaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Lawrence MiddletonCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0009-0002-2789-7244
Oliver S BurrenCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Fengyuan HuCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Eleanor WheelerCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-8616-6444
Katherine R SmithCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0002-0329-5938
Margarete A FabreCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Jonathan MitchellCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Amanda O'NeillCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Euan A AshleyDivision of Cardiology, Department of Medicine, Stanford University, Palo Alto, CA, USA.ORCID http://orcid.org/0000-0001-9418-9577
Andrew R HarperCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.ORCID http://orcid.org/0000-0001-5327-0328
Quanli WangCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.
Ryan S DhindsaCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.ORCID http://orcid.org/0000-0002-8965-0813
Slavé PetrovskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. slav.petrovski@astrazeneca.com.ORCID http://orcid.org/0000-0002-1527-961X
Dimitrios VitsiosCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. dimitrios.vitsios@astrazeneca.com.ORCID http://orcid.org/0000-0002-8939-5445

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The emergence of biobank-level datasets offers new opportunities to discover novel biomarkers and develop predictive algorithms for human disease. Here, we present an ensemble machine-learning framework (machine learning with phenotype associations, MILTON) utilizing a range of biomarkers to predict 3,213 diseases in the UK Biobank. Leveraging the UK Biobank's longitudinal health record data, MILTON predicts incident disease cases undiagnosed at time of recruitment, largely outperforming available polygenic risk scores. We further demonstrate the utility of MILTON in augmenting genetic association analyses in a phenome-wide association study of 484,230 genome-sequenced samples, along with 46,327 samples with matched plasma proteomics data. This resulted in improved signals for 88 known (P < 1 × 10

Indexed as

Biological Specimen BanksBiomarkersGenetic Predisposition to DiseaseGenome-Wide Association StudyMachine LearningAlgorithmsCase-Control StudiesHumansMultifactorial InheritanceMultiomicsPhenotypePolymorphism, Single NucleotideProteomicsUK BiobankUnited KingdomBiomarkers

Identifiers

PMID39261665
PMCPMC11390475

What OpenQuestion holds

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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.