An Egyptian genome reference


Using various types of sequencing data and most recent bioinformatics tools we generate a high-quality human de-novo assembly of a North African individual. This assembly is complemented with comprehensive genetic data from more than 100 individuals from the same genetic background to construct a population reference genome.

We use this reference to investigate the impact of population-specific genetic variation on gene expression and disease. Towards this end, we focus on SNPs, indels and structural variants in our reference genome which are located within genetic loci that have been associated with gene expression changes in expression quantitative trait loci (eQTL) studies or associated with disease in genome-wide association studies (GWAS).