What question did this study set out to answer?

The aim is to address the diagnostic challenges of rare genetic diseases in consanguineous populations.

Approaches to solving undiagnosed rare genetic diseases in consanguineous populations

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The aim is to address the diagnostic challenges of rare genetic diseases in consanguineous populations.
Review of global and regional burdens of undiagnosed rare genetic diseases.
Implementation of a strategic, multi-omics functional workflow.
Focus on complex, hidden variants in Saudi Arabia's consanguineous population.
Identified the critical need for integrated research pipelines to improve diagnostics.
Stressed the importance of identifying novel diagnostic biomarkers.
Highlighted potential for discovering targetable pathways for therapeutics.

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Review evaluates diagnostic gaps in rare genetic diseases among consanguineous populations, suggesting strategic intervention methods.

Naif A.M. Almontashiri (2026) studied this question.

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