Leveraging hierarchical structures for genetic block interaction studies using the hierarchical transformer.

ABSTRACT: Initially introduced in 1909 by William Bateson, classic epistasis (genetic variant interaction) refers to the phenomenon that one variant prevents another variant from a different locus from manifesting its effects. The potential effects of genetic variant interactions on complex diseases have been recognized for the past decades. Moreover, It has been studied and demonstrated that leveraging the combined SNP effects within the genetic block can significantly increase calculation power, reducing background noise, ultimately leading to novel epistasis discovery that the single SNP statistical epistasis study might overlook. However, it is still an open question how we can best combine gene structure representation modelling and interaction learning into an end-to-end model for gene interac

SUBMITTER: Li S 

PROVIDER: S-EPMC11601704 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature