ArticleAmerican journal of human genetics2026
Principled measures and estimates of trait polygenicity.
Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Article
- Genetic architectures of brain-related traits are shaped by strong selective constraints.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Genetic architectures of brain-related traits are shaped by strong selective constraints.bioRxiv : the preprint server for biology · 2026Article
- Representation in genetic studies affects inference about genetic architecture.bioRxiv : the preprint server for biology · 2026Article
- Article
- Predicting functional constraints across evolutionary timescales with phylogeny-informed genomic language models.bioRxiv : the preprint server for biology · 2025Article
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Abstract
While quantitative and statistical genetic studies often invoke the "polygenicity" of traits and sometimes quantify it, the meaning of the term is not always clear. We propose a principled definition of polygenicity that encompasses a range of measures. We show that these measures satisfy mathematical properties that are sensible and, conversely, that measures that satisfy these properties meet our definition. We consider four specific measures in greater detail, describe how they differ, and show that three of them can be estimated from genome-wide association studies summary statistics using Fourier mixture regression. We then estimate these measures for 36 human traits. This analysis reveals a lack of traits with polygenicity values that fall in the large gap between Mendelian and highly polygenic traits. We discuss the generality of this finding and the evolutionary and cellular processes that may explain it.
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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.