bioRxivBioinformaticsPreprint
VDB: The Arab Variation and Disease Burden Database
Omer S. AlkhnbashiiD, Ruchi JainiD, Sathishkumar RamaswamyiD, Costerwell KhyriemiD, Sven HaunsiD, Rasheed MohammadiD, Rolf BackofeniD, Ahmad N. Abou TayouniD
- Citations
- 1
Abstract
MotivationPublic genomic databases are crucial to precision medicine but often lack representation from Arab populations, which have distinct genetic structures due to high consanguinity rates. ResultsWe present the Arab Variation and Disease Burden Database (AVDB), derived from 1,194 exomes of Emirati individuals, comprising 2,481 curated variants across 850 genes. AVDB provides pathogenicity classification, carrier frequencies, and gene-level at-risk couple rates (ARCR), reaching 21% under first-cousin mating models. It integrates machine learning for gene prioritization and offers a customizable panel builder. Compared to global panels, AVDB captures more regional burden, filling a major gap in population-specific screening. The resource supports genomic diagnostics and health policy for Arab populations and is freely accessible at https://avdb-arabgenome.ae. Contactomer.alkhnbashi@dubaihealth.ae and ahmad.tayoun@dubaihealth.ae Supplementary informationSupplementary data are available at Bioinformatics online.
- organism: human
- assay: whole-exome sequencing
- research focus: database / resource
- approach: machine learning (classical)
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