Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family
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Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family. / 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.
In: Clinical Chemistry, Vol. 61, No. 4, 2015, p. 617-626.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family
AU - Xu, Yanwen
AU - Chen, Shengpei
AU - Yin, Xuyang
AU - Shen, Xiaoting
AU - Pan, Xiaoyu
AU - Chen, Fang
AU - Jiang, Hui
AU - Liang, Yu
AU - Wang, Wei
AU - Xu, Xun
AU - Wang, Jian
AU - Zhang, Xiuqing
AU - Zhou, Canquan
AU - Wang, Jun
N1 - © 2015 American Association for Clinical Chemistry.
PY - 2015
Y1 - 2015
N2 - 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 and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome.RESULTS: The final accuracy for homozygous and heterozygous single-nucleotide polymorphisms reached 99.62% and 98.39%, respectively. The aneuploidies of embryos were detected as well. Based on the comprehensive embryonic genome, we effectively performed whole-genome mendelian disorder diagnosis and human leukocyte antigen matching tests.CONCLUSIONS: This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single-cell sequencing technology in preimplantation genetic diagnosis clinical practices.
AB - 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 and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome.RESULTS: The final accuracy for homozygous and heterozygous single-nucleotide polymorphisms reached 99.62% and 98.39%, respectively. The aneuploidies of embryos were detected as well. Based on the comprehensive embryonic genome, we effectively performed whole-genome mendelian disorder diagnosis and human leukocyte antigen matching tests.CONCLUSIONS: This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single-cell sequencing technology in preimplantation genetic diagnosis clinical practices.
U2 - 10.1373/clinchem.2014.228569
DO - 10.1373/clinchem.2014.228569
M3 - Journal article
C2 - 25722458
VL - 61
SP - 617
EP - 626
JO - Clinical Chemistry
JF - Clinical Chemistry
SN - 0009-9147
IS - 4
ER -
ID: 135372417