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阿拉伯遗传疾病数据库(AGDDB):一个特定人群的临床与突变数据库。

Arab genetic disease database (AGDDB): a population-specific clinical and mutation database.

作者信息

Teebi Ahmad S, Teebi Saeed A, Porter Christopher J, Cuticchia A Jamie

机构信息

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital For Sick Children and University of Toronto, Toronto, Ontario, Canada.

出版信息

Hum Mutat. 2002 Jun;19(6):615-21. doi: 10.1002/humu.10082.

Abstract

Here we present the Arab Genetic Disease Database (AGDDB), a curated catalog of genetic disorders found in Arab populations. The first release of the database is populated primarily with information from the textbook Genetic Disorders Among Arab Populations [Teebi and Farag, 1997]. AGDDB is composed of data elements revolving around disorder reports. Other reports cover clinical, genomic, reference, and population frequency elements and their important attributes. The Arab Genetic Disease Consortium (30 investigators, 18 countries) is responsible for editing and reviewing AGDDB data. After initial indexing, AGDDB contains over 1,000 unique disorder entries. Entries are linked to their counterparts in the Online Mendelian Inheritance in Man (OMIM) database; similar associations with relevant locus-specific and central mutation databases are planned. The database can be queried by keyword across all its fields, with more focused searches allowed. The database is freely available and may be accessed at www.agddb.org. The database serves as a robust prototype for cataloging variation and disorder information within a specific population.

摘要

在此,我们展示阿拉伯遗传疾病数据库(AGDDB),这是一个经过整理的阿拉伯人群中发现的遗传疾病目录。该数据库的首个版本主要收录了《阿拉伯人群中的遗传疾病》教科书([蒂比和法拉格,1997年])中的信息。AGDDB由围绕疾病报告的数据元素组成。其他报告涵盖临床、基因组、参考文献和人群频率元素及其重要属性。阿拉伯遗传疾病联盟(30名研究人员,18个国家)负责编辑和审核AGDDB数据。经过初始索引后,AGDDB包含1000多个独特的疾病条目。条目与《人类孟德尔遗传在线》(OMIM)数据库中的对应条目相关联;计划与相关的位点特异性和中心突变数据库建立类似关联。该数据库可通过关键词在其所有字段中进行查询,并允许进行更有针对性的搜索。该数据库免费提供,可在www.agddb.org上访问。该数据库是在特定人群中编目变异和疾病信息的强大原型。

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