Abstract
Rare diseases present a unique challenge in biomedical research due to their low prevalence, heterogeneous clinical presentations, and limited understanding of underlying molecular mechanisms. Bioinformatics tools and approaches are increasingly being utilized to identify genetic causes, biomarkers, and therapeutic targets for rare diseases. This article reviews the challenges and opportunities in applying bioinformatics to rare disease research, focusing on genome sequencing, data integration, variant interpretation, and the use of model organisms. We discuss the role of bioinformatics in advancing rare disease research and the potential for precision medicine to improve diagnosis and treatment outcomes for patients with rare diseases.
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