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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	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
Description	Author Affiliation: Xu Y ( First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China); Chen S ( BGI-Shenzhen, Shenzhen, China); Yin X ( BGI-Shenzhen, Shenzhen, China); Shen X ( First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China); Pan X ( BGI-Shenzhen, Shenzhen, China); Chen F ( BGI-Shenzhen, Shenzhen, China); Jiang H ( BGI-Shenzhen, Shenzhen, China); Liang Y ( BGI-Shenzhen, Shenzhen, China); Wang W ( BGI-Shenzhen, Shenzhen, China); Xu X ( BGI-Shenzhen, Shenzhen, China); Wang J ( BGI-Shenzhen, Shenzhen, China); Zhang X ( BGI-Shenzhen, Shenzhen, China); Zhou C ( First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China); Wang J ( BGI-Shenzhen, Shenzhen, China)
Abstract	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 ß-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 ß-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.
File Format	HTM / HTML
ISSN	00099147
e-ISSN	15308561
Journal	Clinical Chemistry
Issue Number	4
Volume Number	61
Language	English
Publisher	American Association for Clinical Chemistry
Publisher Date	2015-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Haplotypes Research Support, Non-u.s. Gov't Prevention & Control Preimplantation Diagnosis Beta-thalassemia Discipline Laboratory Medicine Sequence Analysis, Dna Pregnancy Beta-globins Chemistry Discipline Clinical Chemistry Genetics Polymorphism, Single Nucleotide Retrospective Studies Infant, Newborn Microsatellite Repeats Hla Antigens
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Clinical Biochemistry

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a ß-thalassemia family.

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