ArticleNature communications2025
Predicting the direction of phenotypic difference.
Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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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.
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Who cites it
4 citing papers in PubMed.
- The gene-regulatory evolution of the human skeleton.Nature · 2026Article
- Representation in genetic studies affects inference about genetic architecture.bioRxiv : the preprint server for biology · 2026Article
- Candidate Denisovan fossils identified through gene regulatory phenotyping.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- A Litmus Test for Confounding in Polygenic Scores.bioRxiv : the preprint server for biology · 2025Article
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4 authors.
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Abstract
Predicting phenotypes from genomes is a major goal in genetics, but for most complex phenotypes, predictions are largely inaccurate. Here, we propose a more achievable alternative: relative prediction of phenotypic differences. Even with incomplete genotype-to-phenotype mapping, we show that it is often straightforward to determine whether an individual's phenotype exceeds a threshold (e.g., of disease risk) or which of two individuals has a greater phenotypic value. We evaluated prediction accuracy on tens of thousands of individuals from the same family, same population, or different species. We found that the direction of a phenotypic difference can often be identified with >90% accuracy. This approach also helps overcome some limitations in transferring genetic association results across populations. Overall, our approach enables accurate predictions of key information on phenotypes - the direction of phenotypic difference - and suggests that more phenotypic information can be extracted from genomic data than previously appreciated.
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