Analysis of rare thalassemia genetic variants based on third-generation sequencing

• Published in: Scientific reports Vol. 12; no. 1; p. 9907
• Main Authors: Peng, Cuiting, Zhang, Haixia, Ren, Jun, Chen, Han, Du, Ze, Zhao, Tong, Mao, Aiping, Xu, Ruofan, Lu, Yulin, Wang, He, Chen, Xinlian, Liu, Shanling
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 14.06.2022; Nature Publishing Group; Nature Portfolio
• Subjects: 631/208; 631/208/1516; 692/699; 692/699/1541/13; Blood diseases; Diagnosis; Genetic analysis; Genetic diversity; Genetic screening; Genetic variance; Humanities and Social Sciences; Morbidity; multidisciplinary; Science; Science (multidisciplinary); Thalassemia

Thalassemia is a group of common hereditary anemias that cause significant morbidity and mortality worldwide. However, precisely diagnosing thalassemia, especially rare thalassemia variants, is still challenging. Long-range PCR and long-molecule sequencing on the PacBio Sequel II platform utilized i...