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Article

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family.

Clinical chemistry - 1 Apr 2015

Xu Yanwen, Chen Shengpei, Yin Xuyang, Shen Xiaoting, Pan Xiaoyu, Chen Fang, Jiang Hui, Liang Yu, Wang Wei, Xu Xun, Wang Jian, Zhang Xiuqing, Zhou Canquan, Wang Jun

Abstract excerpt

BACKGROUND: The embryonic genome, including genotypes and haplotypes, contains all the information for preimplantation genetic diagnosis, representing great potential for mendelian disorder carriers to conceive healthy babies. METHODS: We developed a strategy to obtain the full embryonic genome for a β-thalassemia-carrier couple to have a healthy second baby. We carried out sequencing for single blastomere cells...

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PMID: 25722458
DOI: 10.1373/clinchem.2014.228569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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