Advances in Exome and Genome Sequencing for Mutation Detection in Rare Genetic Disorders

The advent of exome and genome sequencing has revolutionized the field of genetics, particularly in the identification of mutations responsible for rare genetic disorders. Exome sequencing, which targets the protein-coding regions of the genome, and whole-genome sequencing, which provides a comprehensive analysis of the entire genome, have significantly increased the diagnostic yield for these conditions. These technologies allow for the identification of both known and novel mutations, facilitating a more accurate diagnosis and enabling personalized treatment strategies. Recent advances in sequencing technologies have improved their accuracy, speed, and cost-effectiveness, making them more accessible for clinical use. The integration of bioinformatics tools and databases has enhanced the interpretation of sequencing data, allowing for the identification of pathogenic variants with greater precision. Additionally, the ability to detect structural variations, copy number variations, and non-coding region mutations has broadened our understanding of the genetic basis of rare disorders. These advancements have profound implications for genetic counseling, as they provide more comprehensive information for risk assessment, carrier screening, and family planning. Furthermore, they pave the way for novel therapeutic approaches, including gene therapy and personalized medicine, offering hope for improved outcomes for patients with rare genetic disorders.

22/07/2025