Arab genetic disease database (AGDDB): A population-specific clinical and mutation database
| Autor: | Ahmad S. Teebi, Christopher J. Porter, A. Jamie Cuticchia, Saeed A. Teebi |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
education.field_of_study
Database Population Genetic Diseases Inborn Cataloging Disease Biology computer.software_genre Arabs Genetics Population Population specific Databases Genetic Mutation Genetics OMIM : Online Mendelian Inheritance in Man Mutation database Humans education computer Genetics (clinical) Specific population |
| Zdroj: | Human Mutation. 19:615-621 |
| ISSN: | 1098-1004 1059-7794 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text