3results about How to "Lower Sequencing Costs" patented technology

This invention relates to a method for structural variant (SV) identification and genotyping in long-read family pedigree samples. The invention pertains to the field of vegetative variant (SV) detection in families, specifically focusing on methods for identifying and genotyping structural variants. The aim of this invention is to address the problems of existing family-based SV detection methods, which heavily rely on high-coverage sequencing, resulting in insufficient utilization of genetic characteristics and inaccurate SV detection and genotyping, as well as the high cost of sequencing multiple samples. This invention uses individual sequencing data from all family members as input, extracts variant features from each member, performs cluster analysis on the family feature set, assigns features to their respective members, and then uses three family feature signal correction methods to correct detection errors. Finally, SVs are located and anchored using Mendelian inheritance laws, and haplotype genotyping of SVs is completed using linkage information from long-read sequencing fragments.

This invention discloses a computer program product and its application for data processing devices in the field of bioinformatics for ctDNA variant detection. The technical problem this invention aims to solve is how to detect ctDNA variants in early-stage cancer or postoperative minimal residual disease (MRD) under conditions of no UMI library construction and moderate sequencing depth. This invention constructs a set of supporting sequences for candidate variant sites, generating a sequence feature tensor and a fragment physical feature vector (including normalized fragment length). The former is input into a first neural network branch to extract sequence representation, and the latter into a second neural network branch to extract physical representation. A fusion module combines the sequence representation and physical representation, and a gating unit calculates the gating weight based on the physical representation and dynamically adjusts the contribution of the sequence representation, outputting the probability of the true ctDNA variant. This invention utilizes physical laws to suppress sequencing noise and can be applied to monitor MRD under conditions without molecular barcodes.

This invention belongs to the field of microbial detection technology and provides a high-throughput, low-cost targeted next-generation sequencing method, including sample collection and preprocessing, target gene amplification, direct library construction, multi-sample pooling, high-throughput sequencing, and data analysis. By optimizing the sample collection and preprocessing, target gene-specific amplification, direct library construction, multi-sample pooling, and high-throughput sequencing and data analysis processes, this invention significantly reduces sequencing costs and improves detection efficiency, while ensuring data accuracy and reliability. It effectively solves the problems of high cost, complex operation, large data volume requirements, and unstable results in existing technologies, and is particularly suitable for low-cost, multi-sample simultaneous detection needs in the field of microbial detection.