Transcriptome-wide association study (TWAS) is a
statistical genetics
Statistical genetics is a scientific field concerned with the development and application of statistical methods for drawing inferences from genetic data. The term is most commonly used in the context of human genetics. Research in statistical gen ...
methodology to improve detection power and provide functional annotation for genetic associations with phenotypes by integrating
single-nucleotide polymorphism
In genetics, a single-nucleotide polymorphism (SNP ; plural SNPs ) is a germline substitution of a single nucleotide at a specific position in the genome. Although certain definitions require the substitution to be present in a sufficiently lar ...
to trait (SNP-trait) associations from
genome-wide association studies
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any varia ...
with SNP-based prediction models of
gene expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, protein or non-coding RNA, and ultimately affect a phenotype, as the final effect. The ...
. The approach was presented by
Eric R. Gamazon
Eric R. Gamazon is a statistical geneticist in Vanderbilt University, with faculty affiliations in the Division of Genetic Medicine, Data Science Institute, and Center for Precision Medicine. He is a Life Member of Clare Hall, Cambridge Univers ...
et al. and
Alexander Gusev et al.
in the journal ''
Nature Genetics
''Nature Genetics'' is a peer-reviewed scientific journal published by Nature Portfolio. It was established in 1992. It covers research in genetics. The chief editor is Tiago Faial.
The journal encompasses genetic and functional genomic studi ...
''. This methodology has been widely adopted, having received 2057 citations (as of December 24, 2021) according to Google Scholar.
See also
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Genome-wide association study
In genomics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of Single-nucleotide polymorphism, genetic variants in different i ...
*
Functional genomics
Functional genomics is a field of molecular biology that attempts to describe gene (and protein) functions and interactions. Functional genomics make use of the vast data generated by genomic and transcriptomic projects (such as genome sequencing ...
*
Genotype-Tissue Expression (GTEx) project
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Epigenome-wide association study
An epigenome-wide association study (EWAS) is an examination of a genome-wide set of quantifiable epigenetic marks, such as DNA methylation, in different individuals to derive associations between epigenetic variation and a particular identifiab ...
References
External links
GTEx Portal
Statistical genetics
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