Identifying causal genotype-phenotype relationships for population-sampled parent-child trios.

ABSTRACT: The process by which genes are transmitted from parent to child provides a source of randomization preceding all other factors that may causally influence any particular child phenotype. Because of this, it is natural to consider genetic transmission as a source of experimental randomization. In this work, we show how parent-child trio data can be leveraged to identify causal genetic loci by modeling the randomization during genetic transmission. We develop a new test, the transmission mean test (TMT), together with its unbiased estimator of the average causal effect, and derive its causal properties within the potential outcomes framework. We also prove that the transmission disequilibrium test (TDT) is a test of causality as a complementary case of the TMT for the affected-only design. T

SUBMITTER: Tang Y 

PROVIDER: S-EPMC11661140 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature