CTGA - Systematic Repository of Disease, Gene, & Variant data in the Arab World - Sami Bizzari

Talk by Sami Bizzari at the 9th Pan Arab Human Genetics Conference.

The Catalogue for Transmission Genetics in Arabs (CTGA) Database, hosted online since 2005 at cags.org.ae/ctga, is an open-access compendium of bibliographic data on genetic disorders in Arabs, compiled and curated from searches on Medline, Index Medicus, and Google Scholar. The purpose of CTGA is to address the under-representation of Arab data in genetic databases by showcasing the vast amount of Arab genotype-phenotype data available in the literature.

In 2019, the data entry process was streamlined through automation while maintaining a thorough manual curation, and the user interface was revamped into a concise tabular database. The structure of CTGA involves interconnected disease, gene, and variant records hosting anonymous data from Arab individuals across 23 Arab countries. Highlights of CTGA data include variant annotation using HGVS terms, phenotypic descriptions using Human Phenotype Ontology terms, as well as linked disease, gene, and variant IDs from databases such as OMIM, dbSNP, and ClinVar. A versatile advanced search was implemented where users can pull specific results by combining multiple filters. CTGA holds a total of 6244 records (October 2021). Our most recent update incorporated bibliographic data of Lebanese subjects up to the year 2020; we report on 641 diseases, 676 genes, and 1317 variant records curated from a total of 814 publications- including 172 variants previously unreported in dbSNP and ClinVar, as well as 15 Lebanese-specific disorders.

CTGA is a valuable resource for clinicians, geneticists, and researchers dealing with Arab patients, and is currently open to data submission of published data.