Annotation of Chromosome 7 resulted in the first and most detailed description of human chromosome 7, including the assembly of 158 329 839 nucleotides and 1917 genes by the end of the project. Seventy-one of these gene structures were novel and an additional 481 were predicted genes. A number of chromosomal features were also identified that allow investigators to understand how genes are regulated and how chromosomal abnormalities lead to disease. The outcomes of this research effort were reported in an article published in Science (March 2003) and on a publicly available web site, the Chromosome 7 Database, a widely used Chromosome 7 resource by researchers worldwide.
One example of the immediate clinical impact of this work was the identification of a new genetic mechanism involved in Williams-Beuren syndrome. In terms of commercial impact, two patents were granted.