A principled framework for defining and estimating trait polygenicity from genetic data
By
Luke J. O’Connor1,2 Send email to [email protected] ∙ Guy Sella3,4 Send email to [email protected]
The bagel they save for the regulars. Don't skim, savour.
Summary
This article proposes a principled definition of "polygenicity" for genetic traits, establishing mathematical measures that satisfy sensible properties. The authors define four specific measures of polygenicity, show how they differ, and demonstrate that three can be estimated from genome-wide association study (GWAS) summary statistics. Applying these measures to 36 human traits, they find that most traits fall between the extremes of Mendelian (single-gene) and highly polygenic traits, with few occupying the large gap between these categories.
Key quotes
· 3 pulledThe 'polygenicity' of traits is often invoked, sometimes quantified, but rarely defined from first principles.
We propose a principled definition of polygenicity that encompasses a range of measures.
We estimate three measures for 36 human traits and find that few fall in the large gap between Mendelian and highly polygenic traits.
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