eQTL epistasis: detecting epistatic effects and inferring hierarchical relationships of genes in biological pathways | Zendy

Mingon Kang | Zendy; Chunling Zhang | Zendy; Hyung-Wook Chun | Zendy; Chris Ding | Zendy; Chunyu Liu | Zendy; Jean Gao | Zendy

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eQTL epistasis: detecting epistatic effects and inferring hierarchical relationships of genes in biological pathways

Author(s) -

Mingon Kang,

Chunling Zhang,

Hyung-Wook Chun,

Chris Ding,

Chunyu Liu,

Jean Gao

Publication year - 2014

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btu727

Subject(s) - epistasis , biology , missing heritability problem , computational biology , genome wide association study , trait , genetics , expression quantitative trait loci , gene , computer science , genetic variants , single nucleotide polymorphism , genotype , programming language

Epistasis is the interactions among multiple genetic variants. It has emerged to explain the 'missing heritability' that a marginal genetic effect does not account for by genome-wide association studies, and also to understand the hierarchical relationships between genes in the genetic pathways. The Fisher's geometric model is common in detecting the epistatic effects. However, despite the substantial successes of many studies with the model, it often fails to discover the functional dependence between genes in an epistasis study, which is an important role in inferring hierarchical relationships of genes in the biological pathway.

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