A Draft Arab Pangenome Reference

• DOI: 10.2139/ssrn.4891977
• Publication Date: 2024-07-11T18:40:11Z
• Authors: Nasna Nassir; Mohamed A. Almarri; Muhammad Kumail; Nesrin Mohamed; Bipin Balan; Shehzad Hanif; Maryam AlObathani; Bassam Jamalalail; Hanan Elsokary; Dasuki Kondaramage; Suhana Shiyas; Noor Kosaji; Dharana Satsangi; Madiha Hamdi Saif...; Ahmad Abou Tayoun; Olfat Zuhair Sale...; Douaa Fathi Youssef; Hanan Sulaiman Al...; Ammar Albanna; Stefan Du Plessis; Hamda Hassan Khan...; Alawi Alsheikh-Ali; Mohammed Uddin

Pangenomes represent a significant shift from relying on single reference sequence to robust set of assemblies. Arab populations remain significantly underrepresented; hence, we present the first Pangenome Reference (APR) utilizing 53 individuals diverse ethnicities. We assembled nuclear and mitochondrial pangenomes using 35.27X high-fidelity long reads, 54.22X ultralong reads 65.46X Hi-C yielded contiguous haplotype-phased de novo assemblies exceptional quality, with an average N50 124.28 Mb. discovered 111.96 million base pairs novel euchromatic sequences absent existing human pangenomes, T2T-CHM13, GRCh38 genomes, other public datasets. identified 8.94 population-specific small variants 235,195 structural within pangenome. detected 883 unique gene duplications including 15.06% associated recessive diseases 1,436 bp pangenome sequence. Our study provides valuable resource for future genomic medicine initiatives in population global populations.