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Transcriptome-wide association study

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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.