What is functional genomics?

The aim of functional genomics studies is to understand the complex relationship between genotype and phenotype on a global (genome-wide) scale. Studies investigate a range of processes such as transcription, translation and epigenetic regulation, in an attempt to answer relevant biological questions such as:

  • When and where are genes expressed?
  • How do gene expression levels differ in various cell types and states?
  • What are the functional roles of different genes and in what cellular processes do they participate?
  • How are genes regulated? Where are the active gene promoters in a particular cell type?
  • How do genes and gene products interact?
  • How does gene expression change in various diseases or following a treatment?
Figure 1. Functional genomics integrates information from various molecular methodologies to gain an understanding of how DNA sequence is translated into complex information in a cell.


Functional genomic experiments (Figure 1) typically utilise large-scale, high-throughput assays to measure and track many genes or proteins in parallel under different experimental or environmental conditions (e.g. with samples from patients and healthy individuals). This “genome-wide” approach allows the function of different parts of the genome to be discovered by combining information from genes, transcripts and proteins.

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