Gene index analysis of the human genome estimates approximately 120,000 genes

Feng Liang, Ingeborg Holt, Geo Pertea, Svetlana Karamycheva, Steven L. Salzberg, John Quackenbush

Research output: Contribution to journalArticlepeer-review

213 Scopus citations


Although sequencing of the human genome will soon be completed, gene identification and annotation remains a challenge. Early estimates suggested that there might be 60,000-100,000 (ref. 1) human genes, but recent analyses of the available data from EST sequencing projects have estimated as few as 45,000 (ref. 2) or as many as 140,000 (ref. 3) distinct genes. The Chromosome 22 Sequencing Consortium estimated a minimum of 45,000 genes based on their annotation of the complete chromosome, although their data suggests there may be additional genes4. The nearly 2,000,000 human ESTs in dbEST provide an important resource for gene identification and genome annotation, but these single-pass sequences must be carefully analysed to remove contaminating sequences, including those from genomic DNA, spurious transcription, and vector and bacterial sequences. We have developed a highly refined and rigorously tested protocol for cleaning, clustering and assembling EST sequences to produce high-fidelity consensus sequences for the represented genes (F.L. et al., manuscript submitted) and used this to create the TIGR Gene Indices5—databases of expressed genes for human, mouse, rat and other species ( Using highly refined and tested algorithms for EST analysis, we have arrived at two independent estimates indicating the human genome contains approximately 120,000 genes.

Original languageEnglish (US)
Pages (from-to)239-240
Number of pages2
JournalNature genetics
Issue number2
StatePublished - Jun 2000
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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