Transcriptome-wide association study

Transcriptome-wide association study (TWAS) is a statistical genetics methodology to improve detection power and provide functional annotation for genetic associations with phenotypes by integrating single-nucleotide polymorphism to trait (SNP-trait) associations from genome-wide association studies with SNP-based prediction models of gene expression. The approach was presented by Eric R. Gamazon et al.[1] and Alexander Gusev et al.[2] in the journal Nature Genetics. This methodology has been widely adopted, having received 2057 citations (as of December 24, 2021) according to Google Scholar.

See also

References
  1. Gamazon ER, Wheeler HE, Shah KP, et al. (September 2015). "A gene-based association method for mapping traits using reference transcriptome data". Nature Genetics. 47 (9): 1091–1098. doi:10.1038/ng.3367. PMC 4552594. PMID 26258848.
  2. Gusev A, Ko A, Shi H, et al. (March 2016). "Integrative approaches for large-scale transcriptome-wide association studies". Nature Genetics. 48 (3): 245–252. doi:10.1038/ng.3506. PMC 4767558. PMID 26854917.


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