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Long-read nanopore sequencing uncovers population-specific structural variation in the Middle East and North Africa
2026-02-23
genetic and genomic medicine
Title + abstract only
View on medRxiv
Show abstract
Structural variants (SVs) are a major source of genomic diversity and disease susceptibility; however, populations from the Middle East and North Africa (MENA) region remain critically underrepresented in global reference databases. We provide the first detailed catalogue of structural variation in 61 individuals from diverse MENA countries, using publicly available ultra-long Oxford Nanopore sequencing. A scalable and dual-reference alignment-based method (GRCh38 and T2T-CHM13) was employed to ...
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