Evidence map›Paper›PMID 32555176›Full record

ArticleNature communications2020

Efficient polygenic risk scores for biobank scale data by exploiting phenotypes from inferred relatives.

Buu Truong, Xuan Zhou, Jisu Shin, Jiuyong Li, Julius H J van der Werf, Thuc D Le, S Hong Lee

Abstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing 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

17 citing papers in PubMed.

  1. Review
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  8. Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022
    Article
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  11. Review
  12. Article
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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

7 authors.

Buu TruongUniSA STEM, University of South Australia, Mawson Lakes, SA, 5095, Australia.ORCID http://orcid.org/0000-0003-0043-0812
Xuan ZhouAustralian Centre for Precision Health, University of South Australia Cancer Research Institute, University of South Australia, Adelaide, SA, 5000, Australia.
Jisu ShinAustralian Centre for Precision Health, University of South Australia Cancer Research Institute, University of South Australia, Adelaide, SA, 5000, Australia.ORCID http://orcid.org/0000-0001-9376-8251
Jiuyong LiUniSA STEM, University of South Australia, Mawson Lakes, SA, 5095, Australia.ORCID http://orcid.org/0000-0002-9023-1878
Julius H J van der WerfSchool of Environmental and Rural Science, University of New England, Armidale, NSW, 2351, Australia.
Thuc D LeUniSA STEM, University of South Australia, Mawson Lakes, SA, 5095, Australia. Thuc.Le@unisa.edu.au.ORCID http://orcid.org/0000-0002-9732-4313
S Hong LeeAustralian Centre for Precision Health, University of South Australia Cancer Research Institute, University of South Australia, Adelaide, SA, 5000, Australia. hong.lee@unisa.edu.au.ORCID http://orcid.org/0000-0001-9701-2718

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Polygenic risk scores are emerging as a potentially powerful tool to predict future phenotypes of target individuals, typically using unrelated individuals, thereby devaluing information from relatives. Here, for 50 traits from the UK Biobank data, we show that a design of 5,000 individuals with first-degree relatives of target individuals can achieve a prediction accuracy similar to that of around 220,000 unrelated individuals (mean prediction accuracy = 0.26 vs. 0.24, mean fold-change = 1.06 (95% CI: 0.99-1.13), P-value = 0.08), despite a 44-fold difference in sample size. For lifestyle traits, the prediction accuracy with 5,000 individuals including first-degree relatives of target individuals is significantly higher than that with 220,000 unrelated individuals (mean prediction accuracy = 0.22 vs. 0.16, mean fold-change = 1.40 (1.17-1.62), P-value = 0.025). Our findings suggest that polygenic prediction integrating family information may help to accelerate precision health and clinical intervention.

Indexed as

Biological Specimen BanksFamily HealthMultifactorial InheritanceFemaleGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeHumansLife StyleMaleModels, GeneticPedigreePhenotypePolymorphism, Single NucleotideReproducibility of Results

Identifiers

PMID32555176
PMCPMC7299943

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.