Borsani G, Ballabio A, Banfi S
Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park and Università Vita e Salute San Raffaele, Milan, Italy.
Hum Mol Genet. 1998;7(10):1641-8. doi: 10.1093/hmg/7.10.1641.
The identification of genes involved in human inherited disorders has been revolutionized by the resources produced by the Human Genome Project. In particular, the generation of >1 000 000 human expressed sequence tags (ESTs) has led to the partial identification of a significant percentage of all human genes. In the next 7 years, we will witness another revolution when sequencing of the human genome is complete. The generation of large amounts of genomic data must be accompanied by parallel efforts to make the information easily accessible. Efforts towards this goal have already started, but retrieval of information from genomic databases still remains an arduous task. With practical examples, we will try to show how the currently available information can be exploited usefully, in particular to identify candidate genes for human diseases.
人类基因组计划所产生的资源彻底改变了人类遗传性疾病相关基因的鉴定工作。特别是，超过100万个人类表达序列标签（EST）的产生，使得相当比例的人类基因得到了部分鉴定。在未来7年里，当人类基因组测序完成时，我们将见证另一场变革。大量基因组数据的产生必须伴随着使这些信息易于获取的并行努力。朝着这一目标的努力已经开始，但从基因组数据库中检索信息仍然是一项艰巨的任务。通过实际例子，我们将试图展示如何有效地利用当前可用的信息，特别是用于鉴定人类疾病的候选基因。
