PAGER: A novel genotype encoding strategy for modeling deviations from additivity in complex trait association studies.

ABSTRACT:

Background

The additive model of inheritance assumes that heterozygotes (Aa) are exactly intermediate in respect to homozygotes (AA and aa). While this model is commonly used in single-locus genetic association studies, significant deviations from additivity are well-documented and contribute to phenotypic variance across many traits and systems. This assumption can introduce type I and type II errors by overestimating or underestimating the effects of variants that deviate from additivity. Alternative genotype encoding strategies have been explored to account for different inheritance patterns, but they often incur significant computational or methodological costs. To address these challenges, we introduce PAGER (Phenotype Adjusted Genotype Encoding and Ranking), an efficient pre-

SUBMITTER: Freda PJ 

PROVIDER: S-EPMC11468469 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature