Arab genetic disease database (AGDDB): A population‐specific clinical and mutation database
Identifieur interne : 000E65 ( Main/Exploration ); précédent : 000E64; suivant : 000E66Arab genetic disease database (AGDDB): A population‐specific clinical and mutation database
Auteurs : Ahmad S. Teebi [Canada] ; Saeed A. Teebi [Canada] ; Christopher J. Porter [Canada] ; A. Jamie Cuticchia [Canada]Source :
- Human Mutation [ 1059-7794 ] ; 2002-06.
English descriptors
- KwdEn :
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. Hum Mutat 19:615–621, 2002. © 2002 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.10082
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001A81
- to stream Istex, to step Curation: 001260
- to stream Istex, to step Checkpoint: 000B35
- to stream Main, to step Merge: 000E75
- to stream Main, to step Curation: 000E65
Le document en format XML
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Porter</name><name sortKey="Teebi, Ahmad S" sort="Teebi, Ahmad S" uniqKey="Teebi A" first="Ahmad S." last="Teebi">Ahmad S. Teebi</name><name sortKey="Teebi, Saeed A" sort="Teebi, Saeed A" uniqKey="Teebi S" first="Saeed A." last="Teebi">Saeed A. Teebi</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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