Assembly, annotation, and integration of UNIGENE clusters into the human genome draft

The recent release of the first draft of the human genome provides an unpre cedented opportunity to integrate human genes and their functions irt a com plete positional context. However, at least three significant technical hur dles remain: first, to assemble a complete and nonredundant human transcrip t index; second, to accurately place the individual transcript indices on t he human genome; and third, to functionally annotate ail human genes. Here, we report the extension of the UNIGENE database through the assembly of it s sequence clusters into nonredundant sequence contigs. Each resulting cons ensus was aligned to the human genome draft. A unique location for each tra nscript within the human genome was determined by the integration of the re striction fingerprint, assembled genomic contig, and radiation hybrid (RH) maps. A total of 59,500 UNIGENE clusters were mapped on the basis of at lea st three independent criteria as compared with the 30,000 human genes/ESTs currently mapped in Genemap'99. Finally, the extension of the human transcr ipt consensus in this study enabled a greater number of putative Functional assignments than the 11,000 annotated entries in UNIGENE. This study repor ts a draft physical map with annotations for a majority of the human transc ripts, called the Human Index of Nonredundant Transcripts (HINT). Such info rmation can be immediately applied to the discovery of new genes and the id entification of candidate genes for positional cloning.