Application progress of single cell sequencing technology in diagnosis of genetic and reproductive / 国际生物医学工程杂志

ABSTRACT

The technique of prenatal diagnosis before embryo implantation has been greatly developed in assisted reproduction, especially for the people with abnormal genetic material to provide the technical possibility of eugenics and eugenics. As an emerging sequencing technology, single-cell sequencing can analyze the genome and transcriptome of cells from the level of a single cell, and reflect the heterogeneity between cells, thus helping to reveal the mechanism of the occurrence and development of diseases. Through prenatal diagnosis before embryo implantation and high-throughput sequencing of single cells obtained from embryo biopsy, euploidy of embryonic chromosomes can be effectively detected, and SNPs and chromosomal copy number variation, insertion, deletion and other variations can also be better detected. It can conduct the comprehensive detection and research of genomic polymorphism and mutation of individual and other species. In this paper, the single-cell sequencing technology and relevant methods was introduced, and the application scenarios of single-cell sequencing in genetic reproduction diagnosis were summarized. The applications of the technology in the field of genetic reproduction were described, and the future directions of the technology were discussed.