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|1. (WO2018157861) METHOD FOR IDENTIFYING BALANCED TRANSLOCATION BREAK POINTS AND CARRYING STATE FOR BALANCED TRANSLOCATIONS IN EMBRYOS|
|Applicants:||YIKON GENOMICS (SHANGHAI) CO., LTD
|Title:||METHOD FOR IDENTIFYING BALANCED TRANSLOCATION BREAK POINTS AND CARRYING STATE FOR BALANCED TRANSLOCATIONS IN EMBRYOS|
Provided is a method for identifying balanced translocation break points and a carrying state for balanced translocations in embryos, comprising the following steps: amplifying and sequencing a sample; comparing the sequence which is obtained by means of sequencing with a reference genome and analyzing copy numbers; accurately determining the position of a translocation break point; detecting single nucleotide polymorphisms (SNPs) around the break point and genotyping the SNPs; analyzing an embryonic haplotype, and comprehensively determining a normal chromosome and a translocation chromosome haplotype; determining the embryonic carrying state and, according to the haplotype, selecting an embryo which does not carry a balanced translocation.