Evaluating the role of next-generation sequencing and radiological techniques in rare disease diagnosis

Abstract

Aim: This article evaluates the utility of next-generation sequencing (NGS) and radiological techniques in the diagnosis of rare diseases, emphasizing the challenges and opportunities presented by these technologies. Methods: A comprehensive review of existing literature on NGS technologies, including first, second, and third-generation sequencing methods, as well as their applications in genomics, transcriptomics, and epigenomics, was conducted alongside radiological imaging techniques such as MRI and CT scans. Results: NGS has revolutionized rare disease diagnosis by enabling high-throughput, cost-effective sequencing, facilitating the identification of pathogenic mutations, and advancing personalized medicine. Radiological techniques provide complementary insights into anatomical abnormalities and disease progression. Despite significant advantages, challenges such as data interpretation, cost, and ethical considerations persist. Conclusion: NGS and radiological imaging offer transformative potential in rare disease diagnosis, enhancing our understanding of genetic and anatomical aspects of disorders and enabling targeted therapeutic approaches. Continued technological advancements and integrative analyses with other omics data and imaging findings will further enhance their diagnostic utility.