A comprehensive transcript index of the human genome generated using microarrays and computational approaches.

Eric E. Schadt, Stephen W. Edwards, Debraj GuhaThakurta, Dan Holder, Lisa Ying, Vladimir Svetnik, Amy Leonardson, Kyle W. Hart, Archie Russell, Guoya Li, Guy Cavet, John Castle, Paul McDonagh, Zhengyan Kan, Ronghua Chen, Andrew Kasarskis, Mihai Margarint, Ramon M. Caceres, Jason M. Johnson, Christopher D. ArmourPhilip W. Garrett-Engele, Nicholas F. Tsinoremas, Daniel D. Shoemaker

Research output: Contribution to journalArticlepeer-review

88 Scopus citations


BACKGROUND: Computational and microarray-based experimental approaches were used to generate a comprehensive transcript index for the human genome. Oligonucleotide probes designed from approximately 50,000 known and predicted transcript sequences from the human genome were used to survey transcription from a diverse set of 60 tissues and cell lines using ink-jet microarrays. Further, expression activity over at least six conditions was more generally assessed using genomic tiling arrays consisting of probes tiled through a repeat-masked version of the genomic sequence making up chromosomes 20 and 22. RESULTS: The combination of microarray data with extensive genome annotations resulted in a set of 28,456 experimentally supported transcripts. This set of high-confidence transcripts represents the first experimentally driven annotation of the human genome. In addition, the results from genomic tiling suggest that a large amount of transcription exists outside of annotated regions of the genome and serves as an example of how this activity could be measured on a genome-wide scale. CONCLUSIONS: These data represent one of the most comprehensive assessments of transcriptional activity in the human genome and provide an atlas of human gene expression over a unique set of gene predictions. Before the annotation of the human genome is considered complete, however, the previously unannotated transcriptional activity throughout the genome must be fully characterized.

Original languageEnglish (US)
Pages (from-to)R73
JournalGenome biology
Issue number10
StatePublished - 2004
Externally publishedYes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Genetics
  • Cell Biology


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