title: Computational inference of homologous gene structures in the human genome.
abstract: With the human genome sequence approaching completion, a major challenge is to identify the locations and encoded protein sequences of all human genes. To address this problem we have developed a new gene identification algorithm, GenomeScan, which combines exon-intron and splice signal models with similarity to known protein sequences in an integrated model. Extensive testing shows that GenomeScan can accurately identify the exon-intron structures of genes in finished or draft human genome sequence with a low rate of false-positives. Application of GenomeScan to 2.7 billion bases of human genomic DNA identified at least 20,000-25,000 human genes out of an estimated 30,000-40,000 present in the genome. The results show an accurate and efficient automated approach for identifying genes in higher eukaryotic genomes and provide a first-level annotation of the draft human genome.
authors.affiliation: Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
authors.forename: R F
authors.initials: RF
authors.lastname: Yeh
authors.forename: L P
authors.initials: LP
authors.lastname: Lim
authors.forename: C B
authors.initials: CB
authors.lastname: Burge
mesh_terms: D000465:Algorithms; D022202:Chromosomes, Artificial, Bacterial; D019295:Computational Biology / Q000379:methods*; D005796:Genes / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D017422:Sequence Analysis, DNA / Q000379:methods; D012689:Sequence Homology, Nucleic Acid