Arab genetic disease database (AGDDB): a population-specific clinical and mutation database.
作者： Ahmad S. Teebi , Saeed A. Teebi , Christopher J. Porter , A. Jamie Cuticchia
DOI: 10.1002/HUMU.10082
关键词:
摘要: Here we present the Arab Genetic Disease Database (AGDDB), a curated catalog of genetic disorders found in populations. The first release database is populated primarily with information from textbook Disorders Among Populations [Teebi and Farag, 1997]. AGDDB composed data elements revolving around disorder reports. Other reports cover clinical, genomic, reference, population frequency their important attributes. Consortium (30 investigators, 18 countries) responsible for editing reviewing data. After initial indexing, contains over 1,000 unique entries. Entries are linked to counterparts Online Mendelian Inheritance Man (OMIM) database; similar associations relevant locus-specific central mutation databases planned. can be queried by keyword across all its fields, more focused searches allowed. freely available may accessed at www.agddb.org. serves as robust prototype cataloging variation within specific population.
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