Experimental annotation of the human genome using microarray technology

The most important product of the sequencing of a genome is a complete, accurate catalogue of genes and their products, primarily messenger RNA transcripts and their cognate proteins. Such a catalogue cannot be constructed by computational annotation alone; it requires experimental validation on a g...

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Bibliographic Details
Published in:Nature (London) 2001-02, Vol.409 (6822), p.922-927
Main Authors: Boguski, M. S, Shoemaker, D. D, Schadt, E. E, Armour, C. D, He, Y. D, Garrett-Engele, P, McDonagh, P. D, Loerch, P. M, Leonardson, A, Lum, P. Y, Cavet, G, Wu, L. F, Altschuler, S. J, Edwards, S, King, J, Tsang, J. S, Schimmack, G, Schelter, J. M, Koch, J, Ziman, M, Marton, M. J, Li, B, Cundiff, P, Ward, T, Castle, J, Krolewski, M, Meyer, M. R, Mao, M, Burchard, J, Kidd, M. J, Dai, H, Phillips, J. W, Linsley, P. S, Stoughton, R, Scherer, S
Format: Article
Language:English
Subjects:
Algorithms
Alternative Splicing
Cell Line
chromosome 22
Chromosomes, Human, Pair 22
Cloning
Computational Biology
Deoxyribonucleic acid
DNA
DNA microarrays
DNA, Complementary
Exons
Genes
Genome, Human
Genomics
Human Genome Project
Humanities and Social Sciences
Humans
multidisciplinary
Oligonucleotide Array Sequence Analysis
Oligonucleotide Probes
Proteins
Ribonucleic acid
RNA
Science
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Summary:The most important product of the sequencing of a genome is a complete, accurate catalogue of genes and their products, primarily messenger RNA transcripts and their cognate proteins. Such a catalogue cannot be constructed by computational annotation alone; it requires experimental validation on a genome scale. Using ‘exon’ and ‘tiling’ arrays fabricated by ink-jet oligonucleotide synthesis, we devised an experimental approach to validate and refine computational gene predictions and define full-length transcripts on the basis of co-regulated expression of their exons. These methods can provide more accurate gene numbers and allow the detection of mRNA splice variants and identification of the tissue- and disease-specific conditions under which genes are expressed. We apply our technique to chromosome 22q under 69 experimental condition pairs, and to the entire human genome under two experimental conditions. We discuss implications for more comprehensive, consistent and reliable genome annotation, more efficient, full-length complementary DNA cloning strategies and application to complex diseases.
ISSN:0028-0836
1476-4687
DOI:10.1038/35057141