695 results about "High throughput sequence" patented technology

The invention discloses a microbiological culture scheme customization recommendation method and system based on soil data analysis, and relates to the technical field of microbiological culture plants.The method comprises the steps that soil samples at different positions and depths are collected, soil characteristic data are analyzed, and data processing is carried out; microbial community information is obtained through soil DNA extraction, PCR amplification and high-throughput sequencing, and distribution and functions of microorganisms are evaluated in combination with data preprocessing and diversity analysis; selecting proper microbial strains according to soil characteristics and microbial community analysis results; a microbial culture scheme is combined with agricultural management measures; the conditions of soil and microorganisms are monitored in real time, and a microorganism culture scheme is dynamically adjusted based on a feedback mechanism; through field trials and advanced performance evaluation indexes, the effect of the microbial culture scheme is verified for a long time. The method has high adaptability and sustainability, and customized microorganism management schemes can be provided in different agricultural environments.

The invention discloses an aquatic organism diversity rapid evaluation system and method based on GIS and eDNA technologies, and the method comprises the steps: selecting a plurality of sampling points in a target region to collect water samples, and integrating and processing the geographic information data of the sampling points and surrounding regions by adopting a GIS system; extracting eDNA from the collected water sample, performing amplification and sequencing on the eDNA by adopting a high-throughput sequencing technology, obtaining species and relative abundance of the species existing at the sampling point, and forming a species list; importing species distribution information corresponding to the species list into a GIS system, and obtaining a species distribution area and species types; according to the method, a species distribution prediction model is established, aquatic organism diversity change trends of the hot spot area and the potential ecological threat area are monitored in real time, an evaluation report and protection suggestions are formed, and protection measures are updated in time, so that the data acquisition and processing efficiency is improved, and the accuracy of species identification and the comprehensiveness of diversity evaluation are enhanced; and a real-time monitoring and early warning mechanism is provided.

The invention discloses a rapid sequencing and traceability analysis system for input infectious diseases, which relates to the field of customs quarantine and comprises a sample preprocessing unit, a high-throughput sequencing unit, a data processing and quality control unit, a rapid comparison and annotation unit and a traceability analysis unit. According to the input infectious disease rapid sequencing and traceability analysis system, a complete link is formed from sample preprocessing, library construction, data cleaning, pathogen recognition and transmission map construction, module splitting and manual intervention are avoided, and tasks can be automatically completed in large-scale and emergency scenes.

The invention discloses a method for evaluating enhancement and release seedling resources based on environmental DNA polymerization analysis. The method comprises the following steps: carrying out gridding partition on a target water area, collecting a water sample through a designed sampling scheme, and carrying out DNA extraction and high-throughput sequencing to obtain species sequence information of each sampling point. Sequencing data is subjected to species identification by using a bioinformatics method, released species are identified, a spatial abundance model is established, and a preliminary distribution map is generated. And establishing a DNA degradation kinetic model in combination with water area environmental parameters, and carrying out reverse correction on abundance distribution. And through a resource inversion model coupled with hydrodynamics, analyzing biomass distribution characteristics and migration laws of the release group, and obtaining a resource evaluation result. And finally, a species environment preference model is constructed based on migration path analysis, an optimal release area is matched in a target water area, a scientific scheme including release point locations, opportunities and quantity is generated, and a whole-process technical support and a decision basis are provided for enhancement and release.

The invention provides a nucleic acid aptamer for specific recognition of morphine and application of the nucleic acid aptamer, and belongs to the technical field of biosensing and detection. The nucleotide sequence of the nucleic acid aptamer is as shown in SEQ ID NO: 1. The screening method is based on a Capture-SELEX technology and comprises the key steps that streptavidin magnetic beads are used for fixing an ssDNA library, estradiol, deabietic acid and totarol are introduced to serve as reverse screening substances so as to remove non-specific sequences, and finally the high-specificity aptamer is obtained through high-throughput sequencing and affinity determination. The dissociation constant of the aptamer and morphine is 127.31 nM, and the aptamer shows high affinity and high specificity. The invention further relates to application of the aptamer in preparation of a sensor and a kit for detecting morphine, and a new technical means is provided for rapid detection of morphine.

The invention discloses a construction method and application of a pathogenic microorganism genome database. The method comprises the steps of genome acquisition, genome screening, target region grabbing, strain verification, target region sequence clustering, redundancy elimination and database merging. The construction method of the pathogenic microorganism genome database is suitable for targeted high-throughput sequencing, and the corresponding amplification relationship between the primer and the corresponding microorganism genome sequence is obtained through the operations of screening, filtering, simulation amplification and the like on pathogenic microorganism genome data; the risk of wrong identification of pathogenic species can be reduced by constraining the corresponding relationship.

The invention relates to the technical field of biomedical data analysis, and discloses a data analysis method and system for genetic disease gene detection and a storage medium, and the method comprises the following steps: collecting a patient sample, and carrying out high-throughput sequencing to obtain original data; performing quality control and comparison processing on the data to generate variation detection data, and calculating variation information amount; suspicious variation sites are automatically screened, variation information amount is analyzed based on information entropy, and key variation is screened according to a preset threshold; performing Bayesian inference analysis on the key variation, calculating pathogenicity probability, and performing pathogenicity judgment based on an ACMG standard; calculating the matching degree of the key variation and the phenotype in combination with the phenotype information of the patient, and screening the variation conforming to phenotype characteristics; submitting the screening result to a doctor for auditing, and generating a final screening result; and generating a standardized gene detection report according to a final result. According to the method, pathogenic variation is efficiently and accurately recognized, and the automation level and clinical application value of genetic disease gene detection are improved.

The invention relates to a method for carrying out pathogenic microorganism identification and gene variation state joint detection on a pulmonary alveolar lavage fluid sample based on high-throughput sequencing. The method comprises the following steps: extracting nucleic acid from the pulmonary alveolar lavage fluid sample; constructing a metagenome capture library, and constructing a lung cancer polygene library; carrying out final library pooling; performing high-throughput sequencing; and analyzing data. Compared with the prior art, the scheme provided by the invention is based on a technical path of'macro 'captured by metagenome and'target' of targeted high-throughput sequencing; after the constructed final library is subjected to high-throughput sequencing and data analysis, index output (pathogenic microorganism identification, host chromosome copy number variation, gene mutation, gene fusion, gene copy number variation and methylation state) of multiple biomarkers can be met in one-time detection.

The present invention discloses a combination of different nucleic acid aptamers with 291 known targets. By performing sequencing analysis on the nucleic acid aptamer sequences of this combination through single-cell high-throughput sequencing technology, a cell atlas targeting mononuclear cells derived from the peripheral blood of patients with cholangiocarcinoma can be constructed. The nucleic acid aptamers covered by this combination have high specific affinity for their molecular targets. After extending adapters commercialized for sequencing platforms at both ends of the nucleic acid aptamer sequences respectively, by performing high-throughput sequencing on the nucleic acid aptamer sequences with sequencing adapters bound to the surface of mononuclear cells, high-throughput analysis of biomarkers on the surface of mononuclear cells derived from the peripheral blood of patients with cholangiocarcinoma can be achieved, thereby constructing a cell atlas of mononuclear cells derived from the peripheral blood of cholangiocarcinoma.

The invention discloses a method for evaluating the stability of a river ecosystem based on the proportion of generalization species and specialized species. The invention relates to the technical field of river ecosystem stability evaluation, and solves the problem that an existing evaluation method is insufficient in sensitivity to dynamic response of river system stability. The method comprises the following steps: respectively setting sampling points at different river reaches according to actual conditions of a river, collecting benthic microorganism samples on gravels, sand and bottom mud of a target river reach, and measuring environmental indexes of each sampling point; performing high-throughput sequencing on benthic microorganism samples, and identifying generalization species and specialization species by combining the Levins ecological niche width; the method comprises the following steps: identifying and quantifying generalization species and specialized species of benthic microorganisms, determining a threshold relationship between the proportion of the generalization species and the specialized species and the river ecosystem stability, and constructing a river ecosystem stability evaluation system based on the proportion of the generalization species and the specialized species. The stability evaluation of the water ecosystem is realized; and the basin comprehensive management and the ecosystem construction are promoted.

The invention relates to the field of noninvasive prenatal diagnosis, and particularly discloses a preeclampsia noninvasive screening method based on deep sequencing 8bp oligonucleotide double-fragment characteristics, which comprises the following steps: collecting preeclampsia and healthy pregnant woman peripheral blood samples, and extracting free DNA for high-throughput sequencing; the method comprises the following steps: extracting core 8-mer sequences' GTGCGCCC 'and' GATGGGGT 'in a long fragment of 150-200bp through bioinformatics analysis; an integrated support vector machine, K-nearest neighbor, extreme gradient lifting, a random forest and a multi-layer perceptron are combined with a logistic regression element classifier to construct a stacking model, the frequency of a core sequence is normalized, machine learning analysis is carried out, and the preeclampsia risk is predicted. According to the invention, two 8bp oligonucleotide characteristic fragments are specifically screened, and a deep learning architecture of multi-model fusion is combined, so that the limitations of low specificity and invasive detection of a traditional screening method are effectively broken through.

The invention relates to the technical field of tumor data processing, in particular to a methylation-based tumor data processing system. The system comprises the following modules: a methylated sample sequencing module, a sequencing difference site recognition module, a tumor gene sequence analysis module and a tumor subtype classification module, performing high-throughput sequencing on the to-be-detected clinical tumor DNA sample to obtain methylated tumor sequencing data; performing methylation level quantification on the methylated tumor sequencing data, and performing tumor difference site analysis to generate tumor difference site data; performing tumor generation key gene sequence identification according to the tumor difference site data to generate tumor methylation characteristic data; and performing tumor subtype tag identification according to the tumor methylation characteristic data to generate tumor type tag data. According to the method, accurate tumor typing is realized on the basis of tumor DNA methylation characteristic analysis, and the false negative rate of low-concentration sample detection is effectively reduced.

The invention discloses an SNP (Single Nucleotide Polymorphism) and InDel site combination for identifying variety of Inner Mongolia cattle, a 5K targeted capture gene chip and application of the 5K targeted capture gene chip. The SNP and InDel site combination for identifying the variety of the Inner Mongolia cattle is firstly disclosed and comprises 5000 SNP and InDel sites, and the physical position information of a cattle reference genome with the version number of AR-UCD1.2 is shown in a table 1. The invention further discloses a 5K targeting capture gene chip comprising the probe targeting the SNP and InDel site combination as well as a synthesis method and application of the 5K targeting capture gene chip. The 5K targeted capture gene chip completes genetic typing through a targeted capture probe by means of a high-throughput sequencing technology, has the characteristics of low cost, high efficiency and high accuracy, and can realize the variety identification function of Mongolian cattle, Sanhue cattle and Sunitt cattle by utilizing genotype data; important technical support and specific means are provided for identification and evaluation of Inner Mongolia cattle germplasm resources.

The invention discloses a method and system for detecting respiratory tract pathogens, pathogen drug-resistant genes and pathogen virulence genes, and relates to the technical field of gene detection.The method comprises the steps that a respiratory tract sample of a patient is collected, DNA and RNA are extracted, and total nucleic acid is obtained; carrying out first-round PCR amplification on the total nucleic acid, purifying a first-round PCR product, carrying out second-round PCR amplification, and sorting the product to obtain a library building product; performing high-throughput sequencing on the library building product to obtain sequencing data, and detecting pathogens, drug-resistant genes and virulence genes; according to the method and system for detecting the respiratory tract pathogens, the pathogen drug-resistant genes and the pathogen virulence genes, by optimizing library preparation and direct library building of nucleic acid, the process is simplified, and efficiency and accuracy are improved; the balance reagent design guarantees library quality; the kit adapts to pathogen detection requirements in Yunnan and the like, provides efficient diagnosis, shortens detection time, improves treatment effect, regularly updates pathogen information, and keeps technical frontier.

The invention belongs to the technical field of biological detection, and particularly discloses a targeted sequencing primer group and a kit for detecting common pathogens of children and drug-resistant genes thereof. The primer group comprises 145 primer pairs of common children pathogen primer groups and 67 primer pairs of drug-resistant gene primer groups of the common children pathogen primer groups. According to the kit provided by the invention, nucleic acid in a clinical sample is directly extracted, 212 pairs of specific primers are adopted to realize multi-targeted amplification of a pathogen target area, a high-throughput sequencing platform is adopted to accurately identify pathogens and drug-resistant mutant genes thereof, 72 common children pathogens and drug-resistant genes thereof can be detected at the same time, and the kit has a wide application prospect. More accurate diagnosis information is provided for clinic, a key technical support is provided for early-stage accurate treatment of children infectious diseases, and the technical problems that in the prior art, in children pathogen detection, the detection speed is low, the number of missed detection is large, and the drug-resistant blind area is large are solved.

The present invention discloses a cell-labeling microbead, a preparation method and an application thereof, relating to the field of biological detection. The cell-labeling microbead includes a microbead, a universal primer sequence, a cell label and a linking sequence that are sequentially coupled to the microbead; wherein, the universal primer sequence is used to bind to a primer compatible with a sequencer, and dC in the universal primer sequence is 5-Methyl dC; the cell label is used to trace and identify target cells, and the bases in the cell label include A base, T base, G base; the linking sequence is used to link the cell label to the target cells. The technical solution of the present invention avoids base conversion by removing unmethylated C bases in the universal primer sequence and the cell label sequence, and realizes the construction of a high-throughput single-cell DNA methylation library; by labeling multiple sequences on the microbead, the number of primer syntheses and costs are significantly reduced, which helps to promote the development and application of high-throughput sequencing technology for single-cell DNA methylomes.

The invention relates to the technical field of environmental monitoring and water ecological safety, in particular to a eukaryotic algae outbreak early warning method and system based on genus-level specific recognition. The method comprises the following steps: collecting a water body sample at a monitoring position according to a preset sampling plan, collecting an environment measurement value, and respectively obtaining environment parameter data, a water sample sampling identifier and a sampling timestamp; extracting nucleic acid from the water sample at the monitoring position based on the water sample sampling identifier, performing targeted amplification, and performing high-throughput sequencing at the same time to obtain eDNA original sequencing data; therefore, by constructing the eukaryotic algae outbreak early warning process based on genus-level specific recognition, the problems that in a traditional method, sampling disturbance is uncontrollable, sequence judgment precision is insufficient, trend recognition is lagged, and an early warning link is not transparent are solved, and the accuracy, stability and traceability of early judgment of algae outbreak are improved.

The invention provides a method for evaluating grassland degradation based on microbial community structures and composition, and belongs to the technical field of grassland degradation degree evaluation. The method comprises the following steps: selecting a representative sample plot in a to-be-evaluated grassland degradation area, selecting a sample square in the sample plot, and collecting rhizosphere soil in the sample square; mixing rhizosphere soil of all quadrat belonging to the sample plot to obtain a soil sample; analyzing the OTU number of bacteria and the OTU number of fungi in the soil sample by adopting high-throughput sequencing; calculating a grassland degradation grade evaluation value according to the OTU number of the bacteria and the OTU number of the fungi; according to the grassland degradation grade evaluation value and the grassland degradation grade evaluation standard, grassland degradation evaluation is carried out, and an evaluation result is obtained. The grassland degradation grade evaluation value of the to-be-evaluated area is calculated by taking the microflora structure and composition of the to-be-evaluated area as evaluation indexes, and the grassland degradation grade of the to-be-evaluated area is determined in combination with the grassland degradation grade evaluation standard.

The present application discloses a specific DNA fragment for sex identification of Pelteobagrus ussuriensis and a method for sex identification, specifically relating to the technical field of sex identification of Pelteobagrus ussuriensis. The above-mentioned identification method includes the following steps: Dissect 5 female and 5 male Pelteobagrus ussuriensis of a full-sib family to determine the physiological sex; respectively extract DNA from the muscles of female samples and male samples, construct a paired-end genomic DNA library with an insert fragment size of 300 bp, and perform high-throughput sequencing; based on the GWAS and Fst methods, identify that the sex chromosome of Pelteobagrus ussuriensis is chromosome 8, and then screen for Indels within the sex determination region on chromosome 8; screen a 601-bp male-specific DNA sequence and design and synthesize primers; use PCR amplification and agarose gel electrophoresis detection, and the result without specific bands is female, and the one with a 356-bp band is male. This scheme has the advantages of strong specificity, simple primer composition, and more intuitive identification of the sex of Pelteobagrus ussuriensis.

The invention belongs to the technical field of gene detection and gene molecular breeding, and particularly relates to a meat duck whole genome molecular probe combination based on molecular phenotype screening, a 50K gene chip and application thereof. The molecular probe combination and the gene chip of the marker site combination for meat duck whole genome breeding simultaneously cover 7 representative meat duck varieties and 71 economic characters, have richer polymorphism and higher pertinence in meat duck groups, and are lower in cost and higher in speed compared with high-throughput sequencing detection; the breeding chip is designed according to the growth, feed efficiency, slaughtering, breeding, egg quality and various molecular phenotypes of the meat ducks, and compared with a high-throughput sequencing technology, the breeding chip is higher in seed selection accuracy, has higher breeding value, can be widely applied to breeding genotype detection of the meat ducks, and can be used for detecting the breeding genotypes of the meat ducks. And the method has creative significance in the aspect of meat duck genome selective breeding.

The invention relates to the technical field of immune repertoire sequencing, in particular to a sequence data analysis method and device for biological system state modeling and a storage medium. According to the method, high-throughput sequencing data of B / T cell receptors are acquired, nonlinear gain correction and V-J gene combination preference feature extraction are performed, structured feature nodes are constructed, features are coded by using a Transform model, a system state vector is generated in combination with weighted average pooling, adversarial training is introduced to realize feature decoupling, and signal interference among functional categories is inhibited. And calculating a multi-dimensional immune intensity score based on the system state vector, and quantifying immune response active degrees of different function categories. According to the method, high-sensitivity and multi-dimensional parallel modeling and dynamic evaluation of the immune system state are achieved, the method is suitable for large-scale population immune monitoring and system biological research, and the analysis capacity and application value of immune group library data are remarkably improved.

The invention discloses a targeted sequencing method for various pathogenic microorganisms. The targeted sequencing method specifically comprises the following steps: collecting a biological detection material containing the pathogenic microorganisms; extracting nucleic acid in the pathogenic microorganisms to be detected; designing specific primers and probes according to the target pathogenic microorganisms; amplifying a nucleic acid sequence through a PCR (Polymerase Chain Reaction) technology; carrying out deep sequencing based on a high-throughput sequencer; according to the present invention, the specific primers and the probe are designed, such that the nucleic acid sequence of the target pathogenic microorganism can be efficiently enriched, and the high-throughput sequencing technology is adopted to perform the deep sequencing so as to significantly improve the sensitivity and the accuracy of the detection of the plurality of pathogenic microorganisms; the method can be used for simultaneously detecting various different types of pathogenic microorganisms such as bacteria, viruses, fungi and the like, is simple and convenient to operate, short in time consumption and low in cost, and can provide powerful support for quickly and accurately identifying the pathogenic microorganisms and timely taking effective prevention and control measures.

The invention relates to an analysis method, device and equipment for pathogen targeted high-throughput sequencing data and a medium. The method comprises the steps that targeted enriched pathogen high-throughput sequencing data is generated through an integrated reaction of a chimeric primer and a pathogen sample to be analyzed, and the chimeric primer is composed of a targeted sequence and a linker sequence; corresponding analysis conditions are matched for pathogen species detected according to the pathogen high-throughput sequencing data, the analysis conditions are set based on quality control indexes of the pathogen sample to be analyzed, and the quality control indexes are obtained through comparative analysis of all pathogen test samples and standard pathogen samples; and analyzing the pathogen high-throughput sequencing data according to the analysis conditions to obtain a data analysis result. By adopting the method, the analysis accuracy of data analysis on the pathogen targeted high-throughput sequencing data is improved.

The invention provides a pathogen detection method based on targeted high-throughput sequencing. The pathogen detection method comprises the following steps: S1, acquiring NGS original sequencing data of a pathogen sample to be detected and a negative control sample; s2, removing low-quality data from the obtained original sequencing data, then performing host sequence filtering, and finally performing plasmid sequence filtering to obtain high-quality sequencing Read; s3, comparing the pathogen reference genomes to obtain specific Read data; s4, performing classification according to a comparison result, and calculating the specific Read number and the RPM value of each pathogen; s5, constructing a microbial reference genome database, and verifying the species specificity of the specific Read in the NT database; and S6, grading pathogen detection signals in the to-be-detected sample according to the RPM value and the NTRPM value to obtain a result. The method provided by the invention can effectively reduce false positive of a detection result and interference of background signals, the detection result is accurate, and the method can be well applied to the fields of disease diagnosis, epidemiological investigation, public health prevention and control and the like.

The invention provides an SNP molecular marker combination for paternity test and individual recognition of dairy cows and application, the SNP molecular marker combination comprises 300 SNP markers on 29 autosomes of the dairy cows, the marker combination can be applied to paternity test and individual recognition of the dairy cows, and an identification method comprises the step of preparing a liquid phase chip of the 300 SNP markers, constructing a high-throughput sequencing library by using the genome DNA of the dairy cow to be detected; mixing the liquid phase chip probe with a high-throughput sequencing library, capturing a DNA fragment containing a target SNP site in the dairy cow DNA high-throughput sequencing library, amplifying and purifying to obtain a genetic typing of a dairy cow individual to be detected, and performing paternity test inference according to the genetic typing. The invention provides a probe and a kit for identifying SNP (Single Nucleotide Polymorphism) site information. According to the invention, the SNP polymorphism is detected through targeted capture sequencing, through high-depth sequencing, the typing result is accurate and reliable, and the accuracy of paternity test and individual recognition is ensured.

The present invention discloses a microecological animal model for obstructive sleep apnea syndrome, which includes steps such as constructing a fitting model for the changing trend of OSA events, selecting target animals and performing pretreatment, preparing an animal model, obtaining fecal samples, and DNA extraction and 16S rRNA high-throughput sequencing. By constructing a fitting model for the changing trend of respiratory sleep apnea events, the present invention obtains the fitting mathematical relationship between the number of apnea and time, and establishes an animal model with SD rats. According to the obtained fitting mathematical relationship, the animal model of the experimental group is given periodic oxygen supply to establish an intestinal flora model for studying obstructive sleep apnea syndrome, which can simulate the actual physiological environment during sleep of patients. According to the changing trend of the duration of patients' respiratory sleep apnea events, a microecological animal model more consistent with the actual situation is established, making the detection result of the flora structure more accurate.

The invention belongs to the technical field of biological detection, and discloses a transgenic crop intelligent identification method based on high-throughput sequencing, which comprises the following steps: acquiring multi-platform high-throughput sequencing original data and sample metadata, evaluating quality by platforms, dividing according to a sample partitioning rule, and generating a quality-controlled data block set; distributing data blocks to a plurality of parallel computing nodes, synchronously executing technical detection to obtain technical fact fragments, aggregating and supplementing batch statistical information, and generating a technical fact report; matching the judgment rule set, carrying out parallel judgment, triggering expert rechecking on boundary cases, and integrating to generate a supervision judgment conclusion set; the method comprises the following steps: extracting original sequencing reads of all samples, generating a unique hash for each read, constructing a processing track chain, integrating metadata and visual evidence, generating a credible authentication report, dividing different scene versions, and performing targeted distribution; and extracting identification cases for mining and clustering, generating optimization suggestions, and feeding back the optimization suggestions to the quality control rule base and the judgment rule base.

The invention discloses a method for promoting microbial balance and improving the ecological function of soil through straw returning, and relates to the technical field of agricultural soil improvement. In a raw material pretreatment link, microbial agents A and B are added and fixed in a biochar pore structure, and a good foundation is laid for subsequent field returning through operations of pyrolysis carbonization, biological enzyme addition, foliage spraying of a microbial activator and the like. During field returning operation, measures such as specific deep ploughing depth, straw covering thickness and soil improvement agent adding are adopted according to different soil characteristics. In the fertigation process, the relative water content of soil is accurately controlled, fertilization is conducted according to the specific nitrogen-phosphorus-potassium proportion, and drip irrigation and spray irrigation modes are combined. The change of soil microbial communities is monitored by a high-throughput sequencing technology every 15 days, and the soil oxidation-reduction potential is measured by an oxidation-reduction potential instrument and is regulated and controlled in time. The problem of traditional straw returning is effectively solved, and the soil ecological function and the crop yield are remarkably improved.

The invention discloses a real-time SNV and Indel detection method for second-generation sequencing data, and relates to the real-time SNV and Indel detection method for the second-generation sequencing data. The invention aims to solve the problem that a large amount of initial data generated by a modern high-throughput sequencing platform in a sequencing fragment extension and stack information updating process is in an idle state; the problems of serious waste of computing resources and low efficiency of an analysis process are caused, so that the total period from sample sequencing to obtaining of a variation detection result is remarkably prolonged. The method comprises the following steps: acquiring and processing generated sequencing fragment data in real time while a sequencer performs sequencing operation, immediately mapping the fragments onto a reference genome by utilizing an improved sequence alignment algorithm, determining the accurate positioning of the fragments on the genome, and then continuously performing the sequencing process to obtain the accurate positioning of the fragments on the reference genome. And the obtained comparison result is continuously extended and updated, so that the parallel execution of sequencing and variation detection is finally realized, and the variation detection efficiency is remarkably improved.

The invention discloses a library construction system for gene detection, and relates to the technical field of detection, the library construction system comprises: an extraction bin equipped with extraction equipment; library building equipment is mounted in the library building bin; the transfer bin is arranged between the extraction bin and the library building bin, the conveying mechanism penetrates through the transfer bin, and the extraction bin and the library building bin are selectively communicated with the transfer bin so that the conveying mechanism can convey a to-be-detected sample in the extraction bin to the library building bin through the transfer bin. According to the high-throughput sequencing laboratory, by arranging the transfer device, the conveying mechanism conveys the to-be-tested sample in the extraction bin to the library building bin through the transfer bin, and the extraction bin and the library building bin can be arranged in the same laboratory area, so that the occupied area of the high-throughput sequencing laboratory is effectively reduced; according to the method, the construction cost of a high-throughput sequencing laboratory is saved, the landing time of gene detection products is saved, full-process automation from an extraction link to a library construction link is realized, detection result errors caused by manual operation errors are effectively prevented, and the accuracy of the detection results is improved.