Experimental annotation of the human genome using microarray technology

被引:325
作者
Shoemaker, DD [1 ]
Schadt, EE [1 ]
Armour, CD [1 ]
He, YD [1 ]
Garrett-Engele, P [1 ]
McDonagh, PD [1 ]
Loerch, PM [1 ]
Leonardson, A [1 ]
Lum, PY [1 ]
Cavet, G [1 ]
Wu, LF [1 ]
Altschuler, SJ [1 ]
Edwards, S [1 ]
King, J [1 ]
Tsang, JS [1 ]
Schimmack, G [1 ]
Schelter, JM [1 ]
Koch, J [1 ]
Ziman, M [1 ]
Marton, MJ [1 ]
Li, B [1 ]
Cundiff, P [1 ]
Ward, T [1 ]
Castle, J [1 ]
Krolewski, M [1 ]
Meyer, MR [1 ]
Mao, M [1 ]
Burchard, J [1 ]
Kidd, MJ [1 ]
Dai, H [1 ]
Phillips, JW [1 ]
Linsley, PS [1 ]
Stoughton, R [1 ]
Scherer, S [1 ]
Boguski, MS [1 ]
机构
[1] Rosetta Inpharmat Inc, Kirkland, WA 98034 USA
关键词
D O I
10.1038/35057141
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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.
引用
收藏
页码:922 / +
页数:7
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