FSuSiE enables fine-mapping of QTLs from genome-scale molecular profiles.

ABSTRACT: Molecular quantitative trait locus (QTL) studies seek to identify the causal variants affecting molecular traits like DNA methylation and histone modifications. However, existing fine-mapping tools are not well suited to molecular traits, and so molecular QTL analyses typically proceed by considering each variant and each molecular measurement independently, ignoring the LD among variants and the spatial correlation in effects between nearby sites. This severely limits accuracy in identifying causal variants and quantifying their molecular trait effects. Here, we introduce fSuSiE ("functional Sum of Single Effects"), a fine-mapping method that addresses these challenges by explicitly modeling the spatial structure of genetic effects on molecular traits. fSuSiE integrates wavelet-based func

SUBMITTER: Denault WRP 

PROVIDER: S-EPMC12363973 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature