AVDB: Arab Variation and Disease Burden Dataset

Summary Statistics

This section provides an overview of key population-level statistics...

Top 10 Disorders by Associated Gene Count

This visualization ranks the top 10 disorders by number of associated genes in the Emirati population. These represent conditions most commonly affected by inherited variants and are key candidates for inclusion in national screening initiatives. The gene-disease curation was derived from both internal clinical referrals.

This visualization ranks the top 10 disorders...

Carrier Frequency Distribution

Carrier frequency is calculated based on exome data and reflects how often individuals in the population carry pathogenic or likely pathogenic alleles for autosomal recessive diseases. This distribution helps in evaluating the background burden of carrier status and informs on the potential scope of genomic screening needed to reduce disease incidence.

At-Risk Couple Rate Distribution

This graph estimates the distribution of at-risk couple probabilities under consanguineous assumptions (e.g., first-cousin marriages). It is based on the mathematical model: 2pq × 1/8 for each variant and informs the potential reproductive risks and healthcare implications for Emirati couples. A 21% cumulative risk was observed using the 425-gene panel.

Top Genes by ML Risk Score

This machine learning-driven ranking highlights the genes most likely to contribute to disease burden based on pathogenicity scoring and variant frequency. These genes are prioritized for their potential inclusion in predictive screening models and population-targeted diagnostics, aligning with ACMG guidelines and national health policy.