1 results about "Neural tube defect" patented technology

The application provides a detection system for genetic risk assessment of neural tube defects, and relates to the technical field of bioinformatics. The system comprises: obtaining genomic sequencing data of a to-be-detected individual, performing targeted filtering based on a preset NTD-related gene set, and screening out rare pathogenic variants located in the gene set, MAF satisfying a preset frequency threshold, and predicted to have biological pathogenicity; then, the total number of the rare pathogenic variants is counted to obtain a mutation load value, which is compared with a preset determination threshold, and a risk assessment result is output. The application effectively removes the whole genome background noise by limiting the gene set range and quantifying the cumulative effect of rare pathogenic variants, breaks through the limitations of narrow coverage of traditional single gene detection and lag of imaging diagnosis, significantly improves the specificity and sensitivity of neural tube defect diagnosis, and can realize precise risk early warning in early pregnancy or before embryo implantation.