Rare variant effect estimation and polygenic risk prediction.

doi:10.1038/s41588-026-02705-9

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Article

Rare variant effect estimation and polygenic risk prediction.

Nature genetics - 1 Sept 2026

Nam Kisung, Kho Minjung, Zhou Wei, Mukherjee Bhramar, Lee Seunggeun

Abstract excerpt

Due to their low frequency, estimating the effects of rare variants is challenging. Here we propose RareEffect, a method that first estimates gene-based or region-based heritability and then each variant effect size using an empirical Bayes approach. Our method uses a variance component model, which is popular in rare variant tests, and is designed to provide two levels of effect sizes-gene/region level and...

Read the complete abstract on PubMed

Topics

Humans
Multifactorial Inheritance
Genetic Risk Score
Genetic Variation
Models, Genetic
Bayes Theorem
Genetic Predisposition to Disease

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

Genome-Wide Association Study

Exome Sequencing

Phenotype

Computer Simulation

Polymorphism, Single Nucleotide

UK Biobank

Case-Control Studies

Source

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Identifiers

PMID: 42608548
DOI: 10.1038/s41588-026-02705-9
PMCID: PMC13553284

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