Mendelianization: Concentrating Polygenic Signal Into a Single Causal Locus

ABSTRACT Complex disorders such as depression and alcohol use involve numerous genetic variants, and implicated loci continue to grow with sample size. This proliferation hampers interpretability, as the mechanisms by which so many variants jointly contribute to pathophysiology remain unclear. In contrast, classical Mendelian diseases arise from a single causal locus and are easier to interpret. We thus introduce Mendelianization —an algorithm distinct from Mendelian randomization—that learns weighted combinations of outcomes so that each aggregated phenotype concentrates association at one locus. We prove that this locus is causal under four structural assumptions natural to genetic data. The method handles partial sample overlap, provides calibrated hypothesis tests, maps coefficients to interpretable scales, and quantifies the degree of Mendelianism using summary ‐statistics alone. In experiments, Mendelianization enhances statistical power to detect Mendelian symptom profiles even in heterogeneous disorders like major depression, generalized anxiety, and alcohol use disorder. An R implementation is available at github.com/ericstrobl/Mendelianization .

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Publication Details

Journal
Genetic Epidemiology
Published
2026-08-14
DOI
https://doi.org/10.1002/gepi.70053
Citations
1
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
6.27
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article

Mendelianization: Concentrating Polygenic Signal Into a Single Causal Locus

Eric V Strobl
1 citations
Genetic Epidemiology
Genetic Associations and Epidemiology
6.27
article

Mendelianization: Concentrating Polygenic Signal Into a Single Causal Locus

Eric V Strobl
article en
1 citations

Abstract

ABSTRACT Complex disorders such as depression and alcohol use involve numerous genetic variants, and implicated loci continue to grow with sample size. This proliferation hampers interpretability, as the mechanisms by which so many variants jointly contribute to pathophysiology remain unclear. In contrast, classical Mendelian diseases arise from a single causal locus and are easier to interpret. We thus introduce Mendelianization —an algorithm distinct from Mendelian randomization—that learns weighted combinations of outcomes so that each aggregated phenotype concentrates association at one locus. We prove that this locus is causal under four structural assumptions natural to genetic data. The method handles partial sample overlap, provides calibrated hypothesis tests, maps coefficients to interpretable scales, and quantifies the degree of Mendelianism using summary ‐statistics alone. In experiments, Mendelianization enhances statistical power to detect Mendelian symptom profiles even in heterogeneous disorders like major depression, generalized anxiety, and alcohol use disorder. An R implementation is available at github.com/ericstrobl/Mendelianization .

Genetic EpidemiologyVol. 50(6)
University of Pittsburgh (US)
Openalex Percentile: Top 9%
Genetic Associations and Epidemiology
6.27
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