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Cited by 404

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Computational Inference of Homologous Gene Structures in the Human Genome

Open access
Yeh, Ru-Fang, Lim, Lee P., Burge, Christopher B.·2001·Genome Research

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.

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Metadata

Authors
Yeh, R.-F., Lim, L. P., & Burge, C. B.
Venue
Genome Research
Published
2001-05-01
Volume
11
Issue
5
Pages
803-816
ISSN
  • 1088-9051 (ISSN-L)
  • 1549-5469
OpenAlex
W2141847640
Cited by
404
References
1
Type
posted content
Language
en
Open access
bronze

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