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Full-Text Articles in Life Sciences
Survey Of The Heritability And Sparse Architecture Of Gene Expression Traits Across Human Tissues., Heather E. Wheeler, Kaanan P. Shah, Jonathon Brenner, Tzintzuni Garcia, Keston Aquino-Michaels, Gtex-Consortium, Nancy J. Cox, Dan L. Nicolae, Hae Kyung Im
Survey Of The Heritability And Sparse Architecture Of Gene Expression Traits Across Human Tissues., Heather E. Wheeler, Kaanan P. Shah, Jonathon Brenner, Tzintzuni Garcia, Keston Aquino-Michaels, Gtex-Consortium, Nancy J. Cox, Dan L. Nicolae, Hae Kyung Im
Bioinformatics Faculty Publications
Understanding the genetic architecture of gene expression traits is key to elucidating the underlying mechanisms of complex traits. Here, for the first time, we perform a systematic survey of the heritability and the distribution of effect sizes across all representative tissues in the human body. We find that local h2 can be relatively well characterized with 59% of expressed genes showing significant h2 (FDR < 0.1) in the DGN whole blood cohort. However, current sample sizes (n ≤ 922) do not allow us to compute distal h2. Bayesian Sparse Linear Mixed Model (BSLMM) analysis provides strong evidence that the genetic contribution to local expression traits is dominated by …