Exploring the Role of Whole Genome Sequencing in Rare Disease Diagnosis

Category: Publications

Topic: Genomics | DNA Sequencing

Article Content:Whole Genome Sequencing (WGS) has emerged as a powerful tool in the diagnosis of rare and genetically complex conditions. By analyzing the complete DNA sequence of an individual, researchers and clinicians are able to identify genetic variants that may not be detectable through targeted testing approaches.

In this study, AGTC examined the effectiveness of WGS in identifying pathogenic variants across a cohort of patients with previously undiagnosed conditions. The findings demonstrate that comprehensive DNA analysis improves diagnostic yield and supports earlier clinical intervention.

Beyond diagnosis, WGS also provides valuable insights into disease mechanisms, enabling researchers to better understand genotype–phenotype relationships. As sequencing technologies continue to advance, WGS is expected to play an increasingly central role in precision medicine and genomics-driven healthcare.

Key Highlights:

• Improved detection of rare genetic variants

• Comprehensive coverage beyond targeted panels

• Supports earlier and more accurate diagnosis