Human Genome Project

In addition to improvements in sample throughput,
molecular genetic laboratories are increasingly paying attention
to the functional significance of the genetic changes that they
detect. Functional studies are especially important in predictive
and pre-symptomatic analysis, where the relevance of a
mutation has a direct bearing on the decision making process.
The vast quantity of information that has been generated by
the Human Genome Project will undoubtedly increase the
ability to predict the effect of specific mutations. However,
there may well come a time when the detection of a genetic
event is only the first stage in the investigation into its
functional effect.