Leveraging Long-Read Sequencing in Autosomal Recessive Disease Research

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This presentation outlines the transformative potential of long-read whole genome sequencing (lrWGS) in uncovering novel genetic variants linked to Mendelian diseases, particularly within Middle Eastern family cohorts. It critiques the limitations of traditional exome sequencing and details the comprehensive methodology involving data collection and variant prioritization. Key findings include the discovery of novel variants and notable interpretation challenges, particularly under low-depth...