8results 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.

The invention discloses a solution mixing system and a solution mixing method.The solution mixing system comprises at least two reagent tubes, solution selection pieces and a flow cell, a liquid collection cavity and a liquid distribution cavity are formed in each solution selection piece, and each liquid distribution cavity is provided with a liquid inlet, a liquid outlet and a liquid collection opening; the liquid collecting opening is selectively communicated with any one of the liquid inlet and the liquid outlet, the liquid inlet is communicated with the reagent tube, and the liquid collecting opening is communicated with the liquid collecting cavity; the flow cell is communicated with the liquid outlet, and liquid in the at least two reagent tubes is suitable for flowing to the flow cell after passing through one or at least two solution selection pieces. According to the solution mixing system, the mixed solution is prepared at any time when used, the problem that the stability is poor due to the fact that the mixed solution is prepared in advance and placed for a long time is solved, different solutions can be prepared according to the actual situation, the solution preparation flexibility is high, the sequencing quality can be improved, and the sequencing cost can be reduced.

The application belongs to the field of single cell sequencing, and discloses a method for constructing a microbial single cell genomics sequencing library, which comprises the following steps: 1) lysing microbial single cells; 2) adding an amplification reaction mixture to perform whole genome amplification; 3) adding a fragmentation reagent to obtain a fragmented amplification product; and 4) adding microbeads and an amplification reaction mixture to label the fragmented reaction product with a barcode, so as to obtain raw materials for constructing a microbial single cell whole genome sequencing library. The effective library molecules obtained by using the transposase complex linker sequence and the library construction method designed in the application can be compatible with an Illumina second-generation sequencer, and can be mixed with other sample libraries for sequencing, so that the sequencing cost is greatly reduced.

The invention belongs to the technical field of pathogen molecular diagnosis and high-throughput sequencing, and particularly relates to a novel bunyavirus whole genome capturing and sequencing method and kit for low virus load and high host background samples. Through the collaborative design of host nucleic acid reduction and two rounds of capture and enrichment, under the condition that the proportion of reads of an initial host source is greater than 90%, a high-coverage sequencing result of high-proportion base sites in L / M / S three fragments of the novel bunyavirus can still be obtained at a relatively low sequencing depth, the coverage integrity and the sequencing sensitivity of a whole genome are remarkably improved, and the method is suitable for large-scale popularization and application. And the sequencing cost and the result volatility are effectively reduced. Reliable whole genome data support can be provided for molecular typing, reassortment / recombination identification, aggregation epidemic situation analysis and transmission chain tracing of the novel bunyavirus, and the method has important clinical and public health application value.

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.

The application discloses a high-efficiency chromatin DNA binding map sequencing method. The method adopts BAMEA-Tn5 transposase. The BAMEA-Tn5 transposase is obtained by adding a specific nucleic acid aptamer sequence of a transcription factor to a 5' end of a linker sequence of Tn5 transposase, and the 5' end is provided with a modified group. The method is targeted to a transcription factor site in cells by the BAMEA-Tn5 transposase based on the recognition ability of the nucleic acid aptamer, and the BAMEA linker sequence and the tag are added at the site where chromatin DNA is combined with the transcription factor by the cleavage activity of the Tn5 enzyme. The sequencing method adopts the nucleic acid aptamer to target and recognize the transcription factor, greatly reduces the sequencing cost, and the nucleic acid aptamer has stable performance and strong reproducibility.

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.

The application discloses a cancer non-invasive early screening method and system based on cfDNA sequencing coverage depth characteristics near TSS. The method realizes non-invasive early screening of cancer by establishing an early screening model of cancer through statistical difference of sequencing data coverage depth mode of tumor-derived cfDNA and cfDNA derived from healthy individuals near TSS through a low-depth whole genome sequencing method. The region of 500bp [‑250bp, 250bp] upstream and downstream of TSS is defined as a central region, and the upstream [‑2000bp,‑1000bp] and downstream [1000bp, 2000bp] of TSS are peripheral regions; the NF value of a gene is the average coverage of the central region divided by the average coverage of the peripheral region. The application adopts a low-depth whole genome sequencing method, greatly reduces the cost, and can detect abnormal changes of fragments earlier than cfDNA mutations in the early stage of cancer, and the method is more sensitive than detecting cfDNA mutation information.