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Gene expression

Definition
AI-generated

Gene expression is the process and measured output by which information from a gene is transcribed into RNA and often translated into protein; in omics studies it usually means RNA abundance or synthesis rate for a gene or transcript in a given sample.

Why it matters in GWAS

Expression integrates with eQTL and TWAS to connect noncoding and regulatory variants to altered gene programs, tissue context, and disease mechanisms beyond DNA-only association.

Example usage

"We tested whether the GWAS index SNP overlapped cis regulatory elements linked to reduced gene expression in liver."

References

  • GTEx Consortium. (2020). The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science.

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