Publications by authors named "Omar Abuyousef"
Background: The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings wherein urgent molecular diagnosis is thought to influence acute management. Studies on the clinical utility of RES have been largely limited to outbred populations.
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- Molecular autopsy is a DNA-based method used to identify causes of death, primarily for sudden unexplained deaths in young adults, and this study investigates its effectiveness in determining lethal genetic variants.
- The study analyzed 481 cases of premature death, utilizing techniques like exome sequencing and targeted gene approaches, and found a significant identification rate of likely causal genetic variants in over 63% of cases, highlighting its efficacy compared to the general diagnostic yield.
- The research discovered new disease genes and provided insights into genetic disorders, revealing unexpected phenotypic variations, as well as valuable data for understanding population genetics and variant interpretation.