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Article

Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia.

Journal of assisted reproduction and genetics - 1 Mar 2022

Wu Haitao, Chen Dongjia, Zhao Qiang, Shen Xiaoting, Liao Yongbin, Li Ping, Chiu Philip C N, Zhou Canquan

Abstract excerpt

PURPOSE: This study aimed to evaluate the value of long-read sequencing for preimplantation haplotype linkage analysis. METHODS: The genetic material of the three β-thalassemia mutation carrier couples was sequenced using single-molecule real-time sequencing in the 7.7-kb region of the HBB gene and a 7.4-kb region that partially overlapped with it to detect the presence of 17 common HBB gene mutations in the...

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Identifiers

PMID: 35141813
DOI: 10.1007/s10815-022-02415-1
PMCID: PMC8995213

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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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