As the complete sequence of the human genome becomes available, researchers will use the sequence to develop many powerful new tools for gene discovery and for uncovering the genetic susceptibilities underlying neurologic disease. Nearly 1 in 1000 base pairs are different between the DNA of any 2 individuals; such differences, single nucleotide polymorphisms, can be used for high-density mapping by linkage in families as well as for association studies in populations. New methods are urgently needed for rapid and inexpensive genotyping of single nucleotide polymorphisms in large numbers of patients to detect subtle effects of such polymorphisms on disease phenotypes. Many methodologic questions remain as to what analytical and statistical methods will be most powerful and sensitive to detect the genetic contributions to disease.
Complete sequence will reveal the entire genetic constitution of human beings. The correct number of human genes remains an open question until the sequencing is complete and gaps are closed so that computer programs will be able to scan for "gene signatures" in genomic DNA and direct comparisons can be made between genomic sequence and the sequence of complementary DNA transcripts in multiple tissues. Comparison of human genomic sequence with other species, such as mouse, will allow researchers to use evolutionary conservation as a powerful tool to discover regulatory sequences that have been conserved through evolution.
Nussbaum RL. Scientific Advances, Particularly Reviewing the Scientific Process and Accomplishments. Arch Neurol. 2001;58(8):1313. doi: