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Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China.

Hematology (Amsterdam, Netherlands) - 1 Dec 2022

Wu Jiangfen, Xie Dan, Wang Lei, Kuang Ying, Luo Shulin, Ren Lingyan, Li Di, Mao Aiping, Li Jiaqi, Chen Libao, An Bangquan, Huang Shengwen

Abstract excerpt

OBJECTIVES: To explore the application of third-generation sequencing (TGS) for genetic diagnosis and prenatal genetic screening of thalassemia genes. METHODS: Two groups of subjects were enrolled in this study. The first group included 176 subjects with positive hematological phenotypes for thalassemia. Thalassemia-associated genes were detected simultaneously in each sample using both the PacBio TGS platform...

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PMID: 36519257
DOI: 10.1080/16078454.2022.2156720

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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