ArticleScientific reports2020
Sibling validation of polygenic risk scores and complex trait prediction.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Polygenic scores and physical fitness prediction: a systematic review.Human genetics · 2026Pooled it
- Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.Human genetics · 2026Article
- Predicting the direction of phenotypic difference.Nature communications · 2025Article
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Population Heterogeneity and Selection of Coronary Artery Disease Polygenic Scores.Journal of personalized medicine · 2024Article
- Polygenic embryo screening: quo vadis?Journal of assisted reproduction and genetics · 2024Review
- Predicting the direction of phenotypic difference.bioRxiv : the preprint server for biology · 2024Article
- Review
- Cumulative Genetic Score andNeurology. Genetics · 2023Article
- Biobank-scale methods and projections for sparse polygenic prediction from machine learning.Scientific reports · 2023Article
- Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.European journal of human genetics : EJHG · 2023Article
- Scientific refutation of ESHG statement on embryo selection.European journal of human genetics : EJHG · 2023Article
- Human height: a model common complex trait.Annals of human biology · 2023Review
- A Bayesian model for genomic prediction using metabolic networks.Bioinformatics advances · 2023Article
- Polygenic risk, population structure and ongoing difficulties with race in human genetics.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2022Review
- CyberGenomics: Application of Behavioral Genetics in Cybersecurity.Behavioral sciences (Basel, Switzerland) · 2021Review
- Article
- Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations.Genes · 2021Article
- Machine Learning Prediction of Biomarkers from SNPs and of Disease Risk from Biomarkers in the UK Biobank.Genes · 2021Article
- Polygenic Scores in Developmental Psychology: Invite Genetics In, Leave Biodeterminism Behind.Annual review of developmental psychology · 2020Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
We test 26 polygenic predictors using tens of thousands of genetic siblings from the UK Biobank (UKB), for whom we have SNP genotypes, health status, and phenotype information in late adulthood. Siblings have typically experienced similar environments during childhood, and exhibit negligible population stratification relative to each other. Therefore, the ability to predict differences in disease risk or complex trait values between siblings is a strong test of genomic prediction in humans. We compare validation results obtained using non-sibling subjects to those obtained among siblings and find that typically most of the predictive power persists in between-sibling designs. In the case of disease risk we test the extent to which higher polygenic risk score (PRS) identifies the affected sibling, and also compute Relative Risk Reduction as a function of risk score threshold. For quantitative traits we examine between-sibling differences in trait values as a function of predicted differences, and compare to performance in non-sibling pairs. Example results: Given 1 sibling with normal-range PRS score (< 84 percentile, < + 1 SD) and 1 sibling with high PRS score (top few percentiles, i.e. > + 2 SD), the predictors identify the affected sibling about 70-90% of the time across a variety of disease conditions, including Breast Cancer, Heart Attack, Diabetes, etc. 55-65% of the time the higher PRS sibling is the case. For quantitative traits such as height, the predictor correctly identifies the taller sibling roughly 80 percent of the time when the (male) height difference is 2 inches or more.
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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.