Schuler G D, Boguski M S, Stewart E A, Stein L D, Gyapay G, Rice K, White R E, Rodriguez-Tomé P, Aggarwal A, Bajorek E, Bentolila S, Birren B B, Butler A, Castle A B, Chiannilkulchai N, Chu A, Clee C, Cowles S, Day P J, Dibling T, Drouot N, Dunham I, Duprat S, East C, Edwards C, Fan J B, Fang N, Fizames C, Garrett C, Green L, Hadley D, Harris M, Harrison P, Brady S, Hicks A, Holloway E, Hui L, Hussain S, Louis-Dit-Sully C, Ma J, MacGilvery A, Mader C, Maratukulam A, Matise T C, McKusick K B, Morissette J, Mungall A, Muselet D, Nusbaum H C, Page D C, Peck A, Perkins S, Piercy M, Qin F, Quackenbush J, Ranby S, Reif T, Rozen S, Sanders C, She X, Silva J, Slonim D K, Soderlund C, Sun W L, Tabar P, Thangarajah T, Vega-Czarny N, Vollrath D, Voyticky S, Wilmer T, Wu X, Adams M D, Auffray C, Walter N A, Brandon R, Dehejia A, Goodfellow P N, Houlgatte R, Hudson J R, Ide S E, Iorio K R, Lee W Y, Seki N, Nagase T, Ishikawa K, Nomura N, Phillips C, Polymeropoulos M H, Sandusky M, Schmitt K, Berry R, Swanson K, Torres R, Venter J C, Sikela J M, Beckmann J S, Weissenbach J, Myers R M, Cox D R, James M R, Bentley D, Deloukas P, Lander E S, Hudson T J
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA.
Science. 1996 Oct 25;274(5287):540-6.
The human genome is thought to harbor 50,000 to 100,000 genes, of which about half have been sampled to date in the form of expressed sequence tags. An international consortium was organized to develop and map gene-based sequence tagged site markers on a set of two radiation hybrid panels and a yeast artificial chromosome library. More than 16,000 human genes have been mapped relative to a framework map that contains about 1000 polymorphic genetic markers. The gene map unifies the existing genetic and physical maps with the nucleotide and protein sequence databases in a fashion that should speed the discovery of genes underlying inherited human disease. The integrated resource is available through a site on the World Wide Web at http://www.ncbi.nlm.nih.gov/SCIENCE96/.
据认为，人类基因组含有50000到100000个基因，到目前为止，其中约一半已以表达序列标签的形式进行了采样。一个国际财团组织起来，在一组两个辐射杂种板和一个酵母人工染色体文库上开发并绘制基于基因的序列标签位点标记。相对于一个包含约1000个多态性遗传标记的框架图，已经定位了16000多个人类基因。该基因图谱以一种应能加速发现人类遗传性疾病潜在基因的方式，将现有的遗传图谱和物理图谱与核苷酸及蛋白质序列数据库统一起来。可通过万维网上的一个站点（http://www.ncbi.nlm.nih.gov/SCIENCE96/）获取这一综合资源。
