Keith Elliston, Jeffrey Aaronson, Barbara Eckman, Richard Blevins, Shahid Imran, Joseph Myerson and Alan Williamson.
Department of Bioinformatics and Research Strategies Worldwide, Merck Research Laboratories, Rahway, NJ 07065.
A key goal of the Human Genome Project is the identification of each of the estimated 100,000 genes and their location on the genome map. This will eventually be achieved by the sequencing of the complete genome and its interpretation. An alternative and immediate solution is presented by large scale partial sequencing of random cDNA clones. With this approach it is now practical to undertake a concerted effort to identify the majority of all human genes. The partial cDNA sequences generated using this approach can then be used to build the equivalent of an index to the expressed genes. Both the partial sequences and a resulting transcript map will be of extensive benefit to both academic and commercial research in the elucidation of human disease genes; a beginning point for the development of both diagnostic and therapeutic agents. Already the project has contributed over 220,000 sequences from 131,000 cDNA clones to Genbank, and many of these have been chromosomally assigned and mapped by a consortium organized by HUGO. The sequences and their corresponding cDNA clones are now available to both the academic and commercial research communities without royalty or restriction. By utilizing the sequence to organize the characterized clones into a representative set - the Merck Gene Index - which can be annotated with additional information, the project will provide a powerful resource for analysis of the human genome and genetic disease. The ongoing development of the Merck Gene Index will be discussed in detail, along with preliminary results of the analysis.