Embryo genome profiling by single-cell sequencing for successful preimplantation genetic diagnosis in a family harboring COL4A1 c.1537G>A; p.G513S mutation.

Nayana H Patel,Harsha K Bhadarka,Kruti B Patel,Salil N Vaniawala,Arpan Acharya,Pratap N Mukhopadhyaya,Nilofar R Sodagar

Journal of human reproductive sciences（2016）

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摘要

Single-cell sequencing is a helpful tool for preimplantation embryo profiling. This is the first report from India describing the birth of a normal child through IVF procedure where a potential pathogenic COL4A1 allele was avoided using this technology.

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关键词

COL4A1,embryo,in vitro fertilization,single cell sequencing,surrogate

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