Computational inference of homologous gene structures in the human genome.
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.
Yeh
R F
RF
Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA.
Lim
L P
LP
Burge
C B
CB
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