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Scientists have sequenced the human genome and identified most of its genes. Now it is time to use these genomic data, and the high-throughput technology developed to generate them, to tackle major health problems such as cancer. To accelerate our understanding of this disease and to produce targeted therapies, further basic mutational and functional genomic information is required. A systematic and coordinated approach, with the results freely available, should speed up progress. This will best be accomplished through an international academic and pharmaceutical oncogenomics initiative. 相似文献
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Cheung VG Nowak N Jang W Kirsch IR Zhao S Chen XN Furey TS Kim UJ Kuo WL Olivier M Conroy J Kasprzyk A Massa H Yonescu R Sait S Thoreen C Snijders A Lemyre E Bailey JA Bruzel A Burrill WD Clegg SM Collins S Dhami P Friedman C Han CS Herrick S Lee J Ligon AH Lowry S Morley M Narasimhan S Osoegawa K Peng Z Plajzer-Frick I Quade BJ Scott D Sirotkin K Thorpe AA Gray JW Hudson J Pinkel D Ried T Rowen L Shen-Ong GL Strausberg RL Birney E Callen DF Cheng JF Cox DR Doggett NA Carter NP Eichler EE 《Nature》2001,409(6822):953-958
We have placed 7,600 cytogenetically defined landmarks on the draft sequence of the human genome to help with the characterization of genes altered by gross chromosomal aberrations that cause human disease. The landmarks are large-insert clones mapped to chromosome bands by fluorescence in situ hybridization. Each clone contains a sequence tag that is positioned on the genomic sequence. This genome-wide set of sequence-anchored clones allows structural and functional analyses of the genome. This resource represents the first comprehensive integration of cytogenetic, radiation hybrid, linkage and sequence maps of the human genome; provides an independent validation of the sequence map and framework for contig order and orientation; surveys the genome for large-scale duplications, which are likely to require special attention during sequence assembly; and allows a stringent assessment of sequence differences between the dark and light bands of chromosomes. It also provides insight into large-scale chromatin structure and the evolution of chromosomes and gene families and will accelerate our understanding of the molecular bases of human disease and cancer. 相似文献
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Different molecular weight forms of the protein product of the yeast mitochondrial gene var 1 are shown at arise by a process of asymmetric gene conversion. These different forms can be accounted by two DNA segments, 36 and 57 base pairs long, present in one allelic form of the var 1 structural gene, which can be inserted independently and at different frequencies into other var 1 alleles. 相似文献
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