The elucidation of genetic components of human diseases at the molecular le
vel provides crucial information for developing future causal therapeutic i
ntervention. High-throughput genome sequencing and systematic experimental
approaches are fuelling strategic programs designed to investigate gene fun
ction at the biochemical, cellular and organism levels. Bioinformatics is o
ne important tool in functional genomics, although showing clear limitation
s in predicting ab initio gene structures, gene function and protein folds
from raw sequence data. Systematic large-scale data-set generation, using t
he same type of experiments that are used to decipher the function of singl
e genes, are being applied on entire genomes. Comparative genomics, establi
shment of gene catalogues, and investigation of cellular and tissue molecul
ar profiles are providing essential tools for understanding gene function i
n complex biological networks.