Method for identifying balanced translocation break points and carrying state for balanced translocations in embryos
US11837325B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Mar 2, 2018 |
| Grant date | Dec 5, 2023 |
| Priority date | — |
| Expiry date | Mar 9, 2041 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q1/6869
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Provided is a method for identifying balanced translocation breakpoints 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 breakpoint; detecting single nucleotide polymorphisms (SNPs) around the breakpoint 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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.