Arab Genetic Disease Database (AGDDB): A population-specific clinical and mutation database

被引:21
作者
Teebi, AS
Teebi, SA
Porter, CJ
Cuticchia, AJ
机构
[1] Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Toronto, ON M5G 1X8, Canada
[3] Hosp Sick Children, Bioinformat Supercomp Ctr, Toronto, ON M5G 1X8, Canada
关键词
Arabs; genetic disorders; database; population; clinical; Arab Genetic Disease Consortium; mutation analysis; diversity;
D O I
10.1002/humu.10082
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 data, bases 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.
引用
收藏
页码:615 / 621
页数:7
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