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Article

Correlations between causal effect sizes of proximal SNPs vary with functional annotations and implicate stabilizing selection.

Nature genetics - 1 Sept 2026

Zhang Martin Jinye, Durvasula Arun, Chiang Colby, Koch Evan M, Strober Benjamin J, Shi Huwenbo, Barton Alison R, Kim Samuel S, Weissbrod Omer, Loh Po-Ru, Gazal Steven, Sunyaev Shamil, Price Alkes L

Abstract excerpt

Causal disease effect sizes of proximal single-nucleotide polymorphisms (SNPs) are widely assumed to be independent but could be correlated. Here we introduce a new method, linkage disequilibrium SNP-pair effect correlation regression (LDSPEC), to estimate the correlation of causal disease effect sizes of derived alleles between proximal SNPs; LDSPEC produced robust estimates in simulations. Analyzing 70 UK...

Read the complete abstract on PubMed

Topics

Polymorphism, Single Nucleotide
Linkage Disequilibrium
Humans
Selection, Genetic
Haplotypes

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Gene Frequency

Genome-Wide Association Study

Models, Genetic

Genetic Predisposition to Disease

Computer Simulation

Alleles

Source

Open in PubMed Open full text

Identifiers

PMID: 42595902
DOI: 10.1038/s41588-026-02712-w
PMCID: PMC13479724

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