Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders

Puntos clave

• Long-read sequencing revealed the presence of TERT promoter variants in patients with telomere biology disorders, highlighting their importance.
• In the analysis, significant variants were detected with increased accuracy, improving understanding of clonal hematopoiesis.
• Assessment using long-read sequencing demonstrated improved identification of genetic variants and their roles in telomere biology.
• Findings support the potential for better diagnostic tools for telomere-related conditions, aiding in management strategies.