Homophila:: human disease gene cognates in Drosophila

Homophila:: human disease gene cognates in Drosophila
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DOI:
10.1093/nar/30.1.149
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发表时间:
2002-01-01
影响因子:
14.9
通讯作者:
Gribskov, M
Gribskov, M
中科院分区:
生物学2区
文献类型:
--
作者:
Chien, S;Reiter, LT;Gribskov, M

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虽然许多人类基因与遗传疾病有关,但知道哪些突变导致疾病表型通常不能解释特定疾病的病因。果蝇提供了一个强大的系统,其中使用遗传和分子方法来研究人类遗传疾病。Homophila是一个连接人类和果蝇基因组的基因组间资源,以刺激果蝇的功能基因组研究,解决有关人类遗传疾病的问题。Homophila提供了在线人类孟德尔遗传(OMIM)中汇编的疾病基因与完整的果蝇基因组序列之间的全面联系。Homophila是一个关系数据库,允许基于人类疾病描述、OMIM编号、人类或苍蝇基因名称和序列相似性进行搜索,并且可以在http://homophila.sdsc.edu上访问。
Although many human genes have been associated with genetic diseases, knowing which mutations result in disease phenotypes often does not explain the etiology of a specific disease. Drosophila melanogaster provides a powerful system in which to use genetic and molecular approaches to investigate human genetic diseases. Homophila is an intergenomic resource linking the human and fly genomes in order to stimulate functional genomic investigations in Drosophila that address questions about genetic disease in humans. Homophila provides a comprehensive linkage between the disease genes compiled in Online Mendelian Inheritance in Man (OMIM) and the complete Drosophila genomic sequence. Homophila is a relational database that allows searching based on human disease descriptions, OMIM number, human or fly gene names, and sequence similarity, and can be accessed at http://homophila.sdsc.edu.