Human Genomics, History

Abstract

Biologists at the beginning of the 20th century began to use quantitative methods to explore heritable variation in measurable trait values in both plants and animals, including humans. As tools became available that allowed identification of new genetic markers, these studies were expanded to include larger and more diverse populations. A major technological advance in the 1980s, using restriction endonuclease cleavage site analysis to directly detect variable sequences at specific DNA sites, facilitated the study of variation at the level of DNA rather than proteins. Rapid improvements in DNA sequence analysis at the end of the 20th century led to the Human Genome Project, a major effort involving many laboratories to determine the DNA sequence of an entire human reference genome, thus providing a roadmap of genomic elements (including genes, non-coding RNAs, promoters, enhancers, and other elements identifiable by nucleotide sequence) and their positions within the genome. With this baseline information now available, genomic studies are being extended to characterize diversity at the level of both individuals and populations.