Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances
Jian Tang1,2, Mengxin Lv1,2, Hongqing Zhang2,3
1Department of Medical Genetics and Prenatal Diagnosis, Kunming Women and Children's Health Hospital, China.
Abstract:
With the rapid advancement of sequencing technology, third-generation sequencing, particularly single-molecule real-time sequencing and nanopore sequencing, has opened new avenues for the precise prevention and control of genetic diseases. It offers distinct advantages, including long-read lengths, minimal requirement for extensive polymerase chain reaction amplification, and real-time sequencing capability. This narrative review summarizes and critically evaluates recent advances in the application and latest progress of third-generation sequencing in thalassemia. It focuses on the technical advantages and application status of this technology in detecting complex structural variations, large-scale carrier screening, prenatal diagnosis, and preimplantation genetic testing. The review further analyzes the considerable potential of this technology in improving diagnostic accuracy, shortening detection cycles, and reducing technical costs. Additionally, it discusses the challenges currently faced in data interpretation, standardized processes, and clinical translation. Finally, this review provides insights into future development directions, with the aim of providing new technical perspectives and a theoretical basis for optimizing the prevention and control strategies of thalassemia.
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Sanger Sequencing
Pharmacogenomics: Identification of New Drug Targets
Issues And Trends In Healthcare Delivery System
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
RNA-seq
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
Modern Molecular Taxonomy


