9 results about "Short read" patented technology

The application discloses a method for identifying large fragment sequence insertion of a target genomic region and application thereof, and belongs to the technical field of bioinformatics. In view of the problem that large fragment insertion variation is difficult to be accurately recognized in clinical metagenomic sequencing due to short sequencing read length, insufficient coverage and other factors, the application proposes to construct a reference sequence which can represent the insertion variation by means of manual construction, and to realize efficient identification of the insertion event of the target genomic region by combining a short read-based fast alignment process. The method overcomes the dependence of existing structural variation detection tools on high sequencing depth and long read length, has the advantages of fast identification speed, high sensitivity and high accuracy, and is suitable for rapid screening of large fragment insertion related to drug resistance mechanism in clinical samples. Meanwhile, the method can be popularized for insertion variation analysis of other pathogen drug resistance related genes or genomic regions, and has a good clinical application prospect.

The application discloses a method for adenovirus whole genome sequencing, a primer group and a kit thereof, and belongs to the technical field of DNA detection.The method for adenovirus whole genome sequencing comprises the following steps: S1, first round amplification is carried out by using first round amplification primers with sequences shown in SEQ ID NO.1 to SEQ ID NO.93 in Table 1; and S2, second round amplification is carried out by using second round amplification primers with sequences shown in SEQ ID NO.94 to SEQ ID NO.285 in Table 2.The average length of data sequenced by the method is 0.8 kb, compared with short read length of a second-generation platform, the uniformity of adenovirus coverage can be greatly improved, meanwhile, the adenovirus types are comprehensively covered, and the method can be widely promoted.

The application discloses an aspergillus telomere-to-telomere genome assembly method, device, equipment and storage medium. The method comprises the following steps: using a plurality of sequencing sequence assembly tools to assemble target aspergillus long read genome sequencing data from scratch to obtain a first assembled genome; selecting a first assembled genome meeting a preset condition as an initial assembled genome; integrating other first assembled genomes to fill gaps between repeat regions of the initial assembled genome to obtain a second assembled genome; aligning the long read genome sequencing data to the second assembled genome, identifying abnormal coverage regions and correcting sequences to obtain a third assembled genome; aligning a reference genome to the third assembled genome, connecting and orienting different contigs, and mounting the contigs to chromosomes to obtain a fourth assembled genome; and aligning the long read genome sequencing data and short read sequencing data to the fourth assembled genome for correction to obtain an aspergillus telomere-to-telomere genome assembly result.

The present invention provides methods of sequencing long chromosomal fragments using a short read sequencing method by using two separate transposase-based fragmentation steps.

The application relates to the field of information technology and discloses a method for automatically analyzing and typing HLA based on third-generation sequencing; first, the HLA types of first sequencing read data of different data types of a to-be-tested sample are preliminarily judged, then second sequencing read data is selected, then the identified second sequencing read data of different HLA types is compared with corresponding HLA reference sequences for verification and screening, so that the HLA types existing in the to-be-tested sample are determined; the method can effectively process long read length data generated based on third-generation sequencing technology, reduces the calculation amount of accurate comparison, can realize accurate analysis and report generation of typical third-generation HLA data within 15 minutes, and meets the demand of rapid HLA detection and analysis; meanwhile, the method can also analyze short read length data obtained by second-generation sequencing, and has good data compatibility.

This invention relates to a composition and method for the detection of Tuberculosis drug resistance by multiplex small amplicon based, targeted Next-Gen sequencing (tNGS) using ribonucleotide bases in the primers. It also provides a bioinformatic data analysis tool, for the prediction of drug resistance / susceptibility towards anti- tuberculosis therapy drugs. The invention provides an efficient, cost-effective solution for identifying drug resistance / susceptibility right after tuberculosis diagnosis. In addition, a short read NGS platform with massive parallel sequencing, along with data analysis of this invention, offers high sensitivity and specificity for detection of drug resistance.

The application discloses a virus-host RNA sequence classification method and device based on AI, and relates to the field of biological detection.The method comprises the following steps: mapping preprocessed short read RNA sequences to a host genome twice, assembling short read RNA sequences which are not mapped to the host genome into continuous RNA sequences, and screening RNA sequences with a length greater than 1000bp from the continuous RNA sequences; and performing AI classification on the RNA sequences with a length greater than 1000bp to obtain virus RNA sequences.The application combines host filtering, rapid assembly and AI classification, can significantly reduce the calculation amount and hardware pressure, realizes efficient and accurate virus sequence classification, and can quickly distinguish unknown viruses.

In accordance with embodiments, a processing unit performs alignment of a short read (SR) against a reference genome sequence. The processing unit determines whether the SR is aligned. If the SR is not aligned, the processing unit receives the next SR and processes the next SR by repeating. If the SR is aligned, in response to the determination that the SR is aligned with the reference genome sequence at a first position in the reference genome sequence, the processing unit generates a new SR metadata entry corresponding to the SR. The processing unit finds a linked list in a SR metadata collection. The first position of the linked list in the SR metadata collection corresponds to the first position of the reference genome sequence where the SR is aligned. The processing unit performs duplicate marking based on the SR and the linked list.

The present disclosure provides methods for conducting in situ multiplex and multi-omics detection and identification using coded padlocks probes. The methods comprise simultaneous use of RNA-specific padlock probes and polypeptide-specific padlock probes to detect both RNA and polypeptides in a cellular sample. Both types of probes include a barcode that unique identifies the RNA or polypeptide that that padlock probe detects. Both types of probes also include a batch-specific sequencing primer binding site to enable sequencing a desired subset of concatemer template molecules. Use of the batch-specific sequencing primers reduces overcrowding signals and images, to produces optical images that are intense and resolvable. By conducting multiple rounds of sequencing on the same cellular sample using different batch-specific sequencing primers enables multiplex and multi-omics sequencing to reveal numerous target RNAs and their encoded polypeptides.