RT Journal
A1 Yeh, Ru-Fang
A1 Lim, Lee P.
A1 Burge, Christopher B.
T1 Computational Inference of Homologous Gene Structures in the Human Genome
JF Genome Research 
JO Genome Research 
YR 2001 
FD May 01 
VO 11 
IS 5 
SP 803 
OP 816 
DO 10.1101/gr.175701 
UL http://genome.cshlp.org/content/11/5/803.abstract 
AB 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 thatGenomeScan 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.