A method and system for processing sequencing data

Abstract

The application relates to the technical field of sequencing data processing, in particular to a processing method and system applied to sequencing data. The method comprises the following steps: constructing a continuous signal track according to original sequencing data output by a sequencing device, uniformly converting the continuous signal track in combination with a preset signal coding rule in the sequencing device to form a uniform sequencing carrier; determining a continuous spanning area formed by long-read continuous coverage according to the uniform sequencing carrier, establishing a mapping constraint between the continuous signal track and the continuous spanning area; determining a structural break position in the continuous spanning area according to the mapping constraint, and establishing a structural through chain spanning different continuous spanning areas according to the structural break position; and determining a structural variation according to the structural through chain. The application improves the stability, reliability and automatic analysis efficiency of a complex structural variation recognition result through processing of sequencing data.

Description

Technical Field

[0001] This invention relates to the field of sequencing data processing technology, and in particular to a method and system for processing sequencing data. Background Technology

[0002] Sequencing data has been widely used in fields such as genome structure analysis, genetic variation analysis, population genetic research, and bioinformatics mining. Compared with traditional short-read sequencing technologies, third-generation sequencing technologies have advantages such as long single read lengths, the ability to cross complex repetitive regions, and the ability to completely cover large structural regions. They have significant advantages in complex genome structure analysis, identification of large-fragment structural variations, and continuous analysis of complex regions. Although third-generation sequencing technologies can obtain long continuous read information, the raw sequencing data output typically contains a large amount of continuous signals, base arrangement information, and long-read coverage information. There are complex relationships between different read lengths, such as overlapping coverage, structural crossings, and continuous continuity. For complex structural variations such as chromosomal rearrangements, large-fragment insertions and deletions, inversions, and translocations, since these variations usually cross multiple long-read coverage regions and are accompanied by continuous signal changes and adjustments in base arrangement, existing sequencing data processing methods mostly focus on the comparison and analysis of single reads or local regions. They lack the ability to organize the structural continuity relationships between different continuous coverage regions, easily leading to the fragmentation of continuous supporting information in complex structural regions and affecting the consistency of structural variation analysis results. Summary of the Invention

[0003] Therefore, it is necessary to provide a method and system for processing sequencing data to solve at least one of the above-mentioned technical problems.

[0004] To achieve the above objectives, a method for processing sequencing data includes the following steps: Step S1: Construct a continuous signal trajectory based on the raw sequencing data output by the sequencing device, and perform a unified conversion on the continuous signal trajectory in accordance with the preset signal encoding rules in the sequencing device to form a unified sequencing vector; determine the continuous crossing region formed by the continuous coverage of long reads based on the unified sequencing vector, and establish the mapping constraint between the continuous signal trajectory and the continuous crossing region. Step S2: Determine the structural fracture location within the continuous spanning zone based on the mapping constraints, and establish a structural continuity chain spanning different continuous spanning zones based on the structural fracture location; Step S3: Based on the structural continuity chain, perform correlation analysis on the continuous state of the structure between the continuous crossing areas, determine the structural rearrangement area, and use the continuous signal trajectory to construct a variable support chain for the continuous support state of the structural rearrangement area. Step S4: Perform consistency verification on the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, and calculate the structural variant confidence level in combination with the unified sequencing vector. Generate sequencing analysis results based on the structural variant confidence level.

[0005] The present invention also provides a processing system for sequencing data, used to perform the processing method for sequencing data as described above, the processing system for sequencing data comprising: The signal trajectory establishment module is used to construct continuous signal trajectories based on the raw sequencing data output by the sequencing device, and to uniformly convert the continuous signal trajectories according to the preset signal encoding rules in the sequencing device to form a unified sequencing vector; based on the unified sequencing vector, the continuous crossing regions formed by the continuous coverage of long reads are determined, and the mapping constraints between the continuous signal trajectories and the continuous crossing regions are established. The structural fracture location determination module is used to determine the structural fracture location within a continuous spanning zone based on mapping constraints, and to establish a structural continuity chain spanning different continuous spanning zones based on the structural fracture location. The correlation analysis module is used to perform correlation analysis on the continuous state of the structure between continuous crossing areas based on the structural through chain, determine the structural rearrangement area, and construct a variable support chain based on the continuous support state of the structural rearrangement area using continuous signal trajectories. The artificial intelligence analysis module is used to verify the consistency of the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, and calculate the structural variant confidence level in combination with the unified sequencing vector, and generate sequencing analysis results based on the structural variant confidence level.

[0006] The beneficial effects of this invention are as follows: A continuous signal trajectory is constructed based on the raw sequencing data output by the sequencing equipment, and a unified sequencing vector is formed by combining signal encoding rules. This establishes a unified data organization foundation for sequencing data from different sources and with different read lengths, avoiding the problems of inconsistent data expression and missing continuity relationships that exist in the direct analysis of raw sequencing data. Continuous coverage with long read lengths forms continuous crossing regions, and a mapping constraint is established between continuous signal trajectories and continuous crossing regions. This ensures that continuous signal changes maintain a stable correlation with the corresponding coverage area, providing a reliable data foundation for the continuous analysis of complex structural regions.

[0007] By identifying structural fracture locations and establishing structural continuity chains spanning different continuous crossing regions, structural relationships that were originally scattered across multiple continuous crossing regions are connected continuously, avoiding fragmented analysis caused by the cross-regional distribution of complex structural variations. Based on the structural continuity chains, structural rearrangement regions are identified, and variation support chains are constructed using continuous signal trajectories. This enables multiple long reads to form continuous support relationships for the same structural rearrangement region, improving the completeness and consistency of structural variation information. The consistency of structural rearrangement regions is verified through variation support chains, and the reliability of structural variations is calculated by combining the unified sequencing vector with the input of the artificial intelligence analysis unit. This ensures that the artificial intelligence analysis is based on a data foundation composed of continuous signals, long read coverage relationships, and structural support relationships, improving the stability, reliability, and automated analysis efficiency of complex structural variation identification results, and increasing the utilization rate of complex sequencing data. Attached Figure Description

[0008] Figure 1 This is a flowchart illustrating the steps of a method for processing sequencing data. Figure 2 This is a schematic diagram of a system for processing sequencing data. Figure 3 This is a schematic diagram of the structure with changes in base arrangement; The realization of the objective, functional features and advantages of the present invention will be further explained in conjunction with the embodiments and with reference to the accompanying drawings. Detailed Implementation

[0009] The technical method of the present invention will now be clearly and completely described with reference to the accompanying drawings. Obviously, the described embodiments are only some, not all, of the embodiments of the present invention. All other embodiments obtained by those skilled in the art based on the embodiments of the present invention without inventive effort are within the scope of protection of the present invention.

[0010] Furthermore, the accompanying drawings are merely illustrative of the invention and are not necessarily drawn to scale. The same reference numerals in the drawings denote the same or similar parts, and therefore repeated descriptions of them will be omitted. Some block diagrams shown in the drawings are functional entities and do not necessarily correspond to physically or logically independent entities. These functional entities can be implemented in software, in one or more hardware modules or integrated circuits, or in different network and / or processor methods and / or microcontroller methods.

[0011] It should be understood that although the terms "first," "second," etc., may be used herein to describe various units, these units should not be limited by these terms. These terms are used merely to distinguish one unit from another. For example, without departing from the scope of the exemplary embodiments, a first unit may be referred to as a second unit, and similarly, a second unit may be referred to as a first unit. The term "and / or" as used herein includes any and all combinations of one or more of the associated listed items.

[0012] To achieve the above objectives, please refer to Figures 1 to 3 A method for processing sequencing data includes the following steps: All specific values ​​involved in this embodiment are exemplary parameters used to clearly illustrate the technical operation process and are not the only limitation of the present invention.

[0013] Step S1: Construct a continuous signal trajectory based on the raw sequencing data output by the sequencing device, and perform a unified conversion on the continuous signal trajectory in accordance with the preset signal encoding rules in the sequencing device to form a unified sequencing vector; determine the continuous crossing region formed by the continuous coverage of long reads based on the unified sequencing vector, and establish the mapping constraint between the continuous signal trajectory and the continuous crossing region. Step S2: Determine the structural fracture location within the continuous spanning zone based on the mapping constraints, and establish a structural continuity chain spanning different continuous spanning zones based on the structural fracture location; Step S3: Based on the structural continuity chain, perform correlation analysis on the continuous state of the structure between the continuous crossing areas, determine the structural rearrangement area, and use the continuous signal trajectory to construct a variable support chain for the continuous support state of the structural rearrangement area. Step S4: Perform consistency verification on the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, and calculate the structural variant confidence level in combination with the unified sequencing vector. Generate sequencing analysis results based on the structural variant confidence level.

[0014] In one embodiment, the sequencing device uses a long-read sequencing platform to output raw sequencing data, which includes continuously acquired current signals, corresponding time-sampled sequences, and base identification results. The continuous current signals are arranged according to the time-sampled order to form a continuous signal trajectory. Following the signal encoding rules preset by the sequencing device, the signal amplitude, duration, and corresponding base codes in the continuous signal trajectory are uniformly converted to ensure consistent data organization across different sequencing batches, forming a unified sequencing vector. The continuous coverage of each long-read sequence is statistically analyzed within the unified sequencing vector. Regions with continuous coverage and maintaining a continuous coverage relationship are divided into continuous spanning regions. A mapping constraint is established based on the correspondence between each sampling position in the continuous signal trajectory and the continuous spanning region, ensuring that any sampling position in the continuous signal trajectory can be located within the corresponding continuous spanning region.

[0015] The mapping constraints established in step S1 are invoked to detect signal changes along the continuous signal trajectory within each continuous spanning region. Combined with the base arrangement information in the unified sequencing vector, the positions where the continuous change trend shows obvious transitions are located. The positions that meet the continuous change conditions are identified as structural break positions. Using the structural break positions as connection nodes, the extension direction of the structural continuity relationship between adjacent continuous spanning regions is detected. When the structural break positions in adjacent continuous spanning regions maintain a continuous connection relationship, the structural break positions are connected sequentially according to the continuous extension direction to form a structural through chain that spans different continuous spanning regions, so that the structural relationships originally distributed in different continuous spanning regions are established into a unified continuous connection path.

[0016] Based on the formed structural continuity chains, continuous correlation analysis is performed on the structural connection relationships between each continuous crossing region. The extension of the structural continuity chains in different continuous crossing regions is statistically analyzed, and whether the connection relationships between the structural continuity chains have been reorganized is detected. When multiple structural continuity chains correspond to the same region and the connection relationships are continuously adjusted, the corresponding region is identified as a structural rearrangement region. Continuous signal trajectories are called to detect the continuous coverage of each long read length within the structural rearrangement region. Continuous signal trajectories covering the same structural rearrangement region are integrated, and a variant support chain is constructed based on the continuous support relationship formed by each continuous signal trajectory for the structural rearrangement region. This allows the same structural variant to obtain continuous support information from multiple continuous signal trajectories.

[0017] Based on the formed variant support chains, the consistency of the support relationships corresponding to different continuous signal trajectories within the same structural rearrangement region is verified. The degree of consistency of each continuous signal trajectory in terms of structural rearrangement position, arrangement direction, and coverage continuity is statistically analyzed to form a consistency verification result. The consistency verification result is input into a preset artificial intelligence analysis unit, which combines the base arrangement information in the unified sequencing vector, the long read coverage relationship, and the continuous support information corresponding to the structural rearrangement region for comprehensive analysis. It calculates the structural variant confidence level corresponding to each structural rearrangement region and outputs the structural variant type, structural variant position, and confidence level based on the structural variant confidence level, generating the corresponding sequencing analysis result.

[0018] In another embodiment, assuming the sequencing device outputs 120,000 long reads, each with an average length of 18.6 kb, and a continuous sampling frequency of 4000 Hz, 120,000 continuous signal trajectories are constructed in chronological order. After unified conversion according to preset signal encoding rules, a unified sequencing vector is formed. A total of 2350 consecutive span regions are identified in the unified sequencing vector, with each consecutive span region having an average coverage length of 52 kb and an average overlap length of 4.8 kb between adjacent consecutive span regions. Mapping constraints are established based on the positional correspondence between continuous signal trajectories and consecutive span regions, with each consecutive span region associated with an average of 510 continuous signal trajectories.

[0019] Assuming 428 structural fracture locations were detected across 2350 consecutive spanning zones, with an average interval of 8.7 kb between each fracture location, 386 of these fracture locations showed continuity across adjacent consecutive spanning zones. After establishing connections based on the structural continuity direction, 142 structural continuity chains were created. Each continuity chain spans an average of 3.6 consecutive spanning zones, with the longest chain crossing 11 consecutive spanning zones, providing a complete structural connection framework for subsequent analysis of the structural continuity.

[0020] Assuming that 96 out of 142 structural continuity chains participate in structural continuity state analysis, a total of 58 structural rearrangement regions were detected, with an average coverage length of 16.3 kb for each rearrangement region and an average of 4 structural continuity chains per region. Based on the continuous coverage relationships within the structural rearrangement regions using continuous signal trajectories, a total of 318 continuous support records were obtained, forming 58 variant support chains. Each variant support chain contains continuous support information from an average of 5.5 continuous signal trajectories, with the longest variant support chain corresponding to 12 continuous signal trajectories.

[0021] Assuming that after consistency verification of 58 variant support strands, 52 of them have a consistency score higher than 0.90, and 6 have a consistency score between 0.75 and 0.90. The artificial intelligence analysis unit, combined with the base arrangement information in the unified sequencing vector, performs a comprehensive analysis, calculating that the structural variant confidence levels of the 52 structural rearrangement regions are higher than 95%, the structural variant confidence levels of the 4 structural rearrangement regions are between 85% and 95%, and the structural variant confidence levels of the 2 structural rearrangement regions are lower than 85%. Sequencing analysis results are generated based on the structural variant confidence levels, including the genomic location of the structural variant, the type of structural variant, the corresponding consecutive region number, the variant support strand number, and the structural variant confidence level.

[0022] Please refer to [link / reference needed] for further information. Figure 3 A unified sequencing vector is constructed based on the original sequencing signal. A continuous crossing region is formed in the continuous and stable signal region, and the continuous correspondence of the base arrangement characterization is maintained. When the sequencing signal enters the transition region, the signal fluctuation is enhanced, the base arrangement relationship is reorganized, a new arrangement characterization structure is formed, and the structural break boundary and the arrangement characterization change region are determined. Based on the mapping constraint between the change region and the stable continuous regions on both sides, the continuous connection relationship before and after the change region is restored.

[0023] Preferably, step S2 includes: Based on mapping constraints, the continuous change trend in the continuous crossing area is detected along the continuous signal trajectory, and the continuous signal segment is divided according to the continuous change trend; The location of transitions in a continuous trend along a continuous signal segment is detected, and the structural transition point is determined by combining the base arrangement changes in the unified sequencing vector. Structural fracture boundaries are identified based on structural transition points and a unified sequencing vector. Based on the structural fracture boundary detection, the structural continuity trend between adjacent continuous crossing areas is detected, and the structural continuity direction is determined according to the structural continuity trend. Connect the structural fracture boundaries in adjacent continuous spanning areas along the structural continuity direction to form a structural continuity chain.

[0024] In one embodiment, continuous signal trajectories are associated with corresponding continuous crossing regions. Within each continuous crossing region, changes in the continuous signal are detected according to the sampling order of the continuous signal trajectories. The continuous change relationships of signal amplitude, duration, and slope between adjacent sampling positions are statistically analyzed. When the continuous signal trajectories maintain a continuous change relationship, the corresponding region is divided into the same continuous signal segment. When the continuous change relationship changes continuously, the corresponding position is used as the boundary position of adjacent continuous signal segments. The continuous change trend is continuously detected within each continuous signal segment. When the continuous change trend changes from a stable change to a rapid change while maintaining continuous change characteristics, the base arrangement change information of the corresponding position in the unified sequencing vector is extracted. The position where the continuous change trend and the base arrangement change are synchronously corresponding is determined as the structural transition point.

[0025] Based on the arrangement of each structural transition point in the unified sequencing vector, continuous base arrangement information is extracted from both sides of the structural transition point. Combined with the continuous changes in the continuous signal trajectory near the structural transition point, the continuous arrangement relationship on both sides of the structural transition point is compared to determine the termination position of the continuous arrangement relationship. This position is identified as the structural fracture boundary. Using the structural fracture boundary as the connection node between continuous spanning regions, the continuous extension relationship between structural fracture boundaries in adjacent continuous spanning regions is detected. When multiple structural fracture boundaries maintain a continuous connection relationship, the corresponding structural continuity trend is determined, and the structural continuity direction is determined based on the structural continuity trend. The structural fracture boundaries in adjacent continuous spanning regions are sequentially connected along the determined structural continuity direction to establish a structural continuity chain spanning multiple continuous spanning regions. This enables the structural information in different continuous spanning regions to form a continuous continuity relationship, providing a continuous structural connection basis for subsequent structural rearrangement region analysis.

[0026] In another embodiment, it is assumed that the unified sequencing vector contains 2350 consecutive spanning regions, and 127,500 consecutive signal trajectories are associated with each based on mapping constraints, with each consecutive spanning region corresponding to an average of 542 consecutive signal trajectories. After detecting continuous change trends within the consecutive spanning regions, a total of 6480 signal continuous segments are obtained, with each signal continuous segment having an average length of 7.8 kb. Based on the correspondence analysis between the continuous change trends and the base arrangement changes in the unified sequencing vector, a total of 523 structural transition points are identified, with an average interval distance of 9.6 kb between each structural transition point. Detecting the continuous arrangement relationship on both sides of the 523 structural transition points, a total of 497 structural break boundaries are identified, of which 452 structural break boundaries can establish a continuous connection relationship with adjacent consecutive spanning regions. Based on the continuous extension relationship between the structural break boundaries, 178 structural continuity trends are determined, with each structural continuity trend covering an average of 4 consecutive spanning regions and the longest covering 13 consecutive spanning regions. After the connections are completed according to the corresponding structural continuity direction, a total of 178 structural continuity chains are formed. Each structural continuity chain connects an average of 8 structural fracture boundaries, providing a complete structural connection relationship for the correlation analysis of the structural continuity state between continuous crossing zones.

[0027] Preferably, detecting the location of transitions along continuous signal segments and determining structural transition points by combining the base arrangement changes in the unified sequencing vector includes: The local variation amplitude of the continuous signal trajectory is detected along the continuous signal segment, and the signal transition zone is determined based on the position where the local variation amplitude continuously exceeds the preset variation range; In the signal transition region, the position where the continuous signal trajectory enters a stable state from continuous change and the position where it exits the stable state are detected, and the structural transition range is defined based on the entry and exit positions. Based on the structural transition range, the continuous distribution of base arrangement changes in the unified sequencing vector within the structural transition range is detected, and the structural transition point is determined based on the continuous distribution.

[0028] In one embodiment, signal values ​​at adjacent sampling positions are sequentially read along the continuous signal trajectory corresponding to each continuous signal segment. The local variation amplitude between the continuous sampling positions is calculated, and the local variation amplitudes are formed into a continuous variation sequence according to the sampling order. When the local variation amplitude continuously exceeds a preset variation range, and the continuous exceedance state maintains a set sampling number, the corresponding region is determined as a signal transition region, so that the signal transition region covers the continuous signal range where the continuous variation trend has been significantly adjusted.

[0029] After identifying the signal transition region, the change state of the continuous signal trajectory is continuously detected along the signal transition region. The entry position corresponding to the continuous signal trajectory entering a stable change state from continuous change is recorded, and the exit position corresponding to the continuous signal trajectory leaving the stable change state is also recorded. The structural transition range is defined based on the continuous signal range covered between the entry and exit positions, so that the structural transition range corresponds to the continuous region where the continuous change trend completes a full transition. Within the structural transition range, the base arrangement information in the unified sequencing vector is called to detect the continuous distribution of base arrangement changes within the structural transition range. The continuous connection relationship between adjacent base arrangements and the continuation state of arrangement changes are analyzed. When the base arrangement changes form a continuous distribution within the structural transition range and maintain a corresponding relationship with the transition changes in the continuous signal trajectory, the corresponding position is determined as the structural transition point, so that the structural transition point has both continuous signal change characteristics and base arrangement change characteristics.

[0030] Preferably, detecting the continuous distribution of base arrangement changes within the structural transition range in a unified sequencing vector based on the structural transition range includes: Based on the range of structural transitions, the range of continuous arrangement of bases in the unified sequencing vector is defined, and the base arrangement that maintains continuous arrangement within the range of continuous arrangement is defined as the base arrangement holding strand. Based on the arrangement continuity characteristics between adjacent bases, the arrangement evolution process of changing the continuity of base arrangement is identified, and arrangement recombination relationship is established based on the arrangement evolution process; The degree of continuity of base arrangement within the structural transition range is detected based on the arrangement and recombination relationship, and the continuous distribution state of base arrangement changes within the structural transition range is determined based on the degree of continuity.

[0031] In one embodiment, continuous base arrangement information within the structural transition range is extracted from the unified sequencing vector, and the continuous arrangement range of base arrangement changes is defined according to the continuous distribution order of the base arrangements in the unified sequencing vector. The arrangement relationship between adjacent base arrangements within the continuous arrangement range is continuously detected. When adjacent base arrangements maintain a continuous succession relationship and the arrangement order remains consistent, the corresponding continuous base arrangements are merged to form a base arrangement maintenance strand, so that each base arrangement maintenance strand corresponds to a continuous base arrangement region that maintains a stable arrangement relationship.

[0032] The algorithm calls upon adjacent base arrangement holding strands and analyzes the arrangement succession relationship between them, detecting changes in the arrangement relationship as the base arrangement transitions from one holding strand to another. When the arrangement succession relationship between adjacent holding strands undergoes continuous adjustment, the corresponding adjustment process is identified as an arrangement evolution process. Based on the succession relationship formed between each holding strand during the arrangement evolution process, an arrangement recombination relationship is established, enabling previously independent holding strands to establish a continuous correspondence.

[0033] The established rearrangement relationships are invoked to detect the continuity of the arrangement relationships between the bases within the structural transition range. The continuous coverage length, number of consecutive connections, and continuous extension of the rearrangement relationships within the structural transition range are statistically analyzed. The degree of continuity of the arrangement relationships is determined based on the degree to which the continuous arrangement relationships between the bases are maintained. When the rearrangement relationships can maintain continuous extension and cover most of the bases within the structural transition range, the base arrangement changes are considered to maintain a continuous distribution within the structural transition range. When the rearrangement relationships are interrupted or the consecutive connections are significantly weakened, the base arrangement changes are considered to have changed their continuous distribution within the structural transition range.

[0034] Preferably, based on the arrangement continuity characteristics between adjacent bases maintaining the chain, the process of identifying the change in the continuity of base arrangement is used to establish the arrangement recombination relationship, including: Based on the base arrangement composition of adjacent base arrangement retaining strands at the connection position, identify the arrangement succession characteristics between adjacent base arrangement retaining strands; Based on the characteristics of arrangement and acceptance, the process of change in the arrangement and acceptance mode between adjacent bases is detected, and the process of change in the arrangement and acceptance mode is identified as the arrangement evolution process; The reconstruction results of the permutation inheritance characteristics are determined based on the permutation evolution process, and permutation recombination relationships are established based on the reconstruction results of the permutation inheritance characteristics.

[0035] In one embodiment, the base arrangement of adjacent base arrangement retaining strands at the connection position is extracted, and the arrangement composition, arrangement order and arrangement correspondence of the base arrangements on both sides of the connection position are statistically analyzed. Based on the continuous connection between the base arrangements on both sides of the connection position, the arrangement connection characteristics between adjacent base arrangement retaining strands are identified, so that each adjacent base arrangement retaining strand establishes a corresponding arrangement connection relationship.

[0036] Based on the identified arrangement and succession characteristics, changes in the arrangement and succession relationships are continuously monitored along the extension direction of each base arrangement maintenance strand. The positions where adjustments occur in the arrangement and succession relationships between adjacent base arrangement maintenance strands, along with the corresponding change patterns, are recorded. When the arrangement and succession relationship gradually transitions from one continuous succession pattern to another and maintains a continuous change, the corresponding change process is defined as the arrangement evolution process. This ensures that the arrangement evolution process fully reflects the adjustment trajectory of the continuous relationship between adjacent base arrangement maintenance strands.

[0037] The permutation evolution process is invoked, and the permutation inheritance characteristics corresponding to each stage of the permutation evolution process are continuously analyzed. Based on the corresponding changes in the permutation inheritance relationship before and after the evolution, the reconstruction result of the permutation inheritance characteristics is determined. Based on the reconstructed permutation inheritance relationship, the correspondence between adjacent base permutation holding chains is re-established, forming a permutation recombination relationship, so that the permutation relationship between the original base permutation holding chains is reorganized according to the new inheritance relationship.

[0038] Preferably, the process of detecting changes in the arrangement and retention patterns between adjacent bases based on arrangement and retention characteristics, and defining these changes as the arrangement evolution process, includes: Based on the arrangement and acceptance characteristics, the arrangement and acceptance ends corresponding to the adjacent base arrangement retaining chains are defined, and corresponding groups of acceptance ends are formed according to the arrangement and acceptance ends; The bonding and adhesion status between each set of bonding ends is detected according to the corresponding group of bonding ends, and the bonding and adhesion status is used to form a bonding migration process. Based on the receiving and migration process, the position where the receiving end of the arrangement re-corresponds is determined, and the re-correspondence process of the receiving end of the arrangement is determined as the arrangement evolution process.

[0039] In one embodiment, the base arrangement of adjacent base arrangement retaining strands at the connection position is continuously analyzed. The terminal base arrangement regions of each base arrangement retaining strand participating in the connection are extracted. Based on the arrangement direction, arrangement order and connection relationship of each terminal base arrangement region, the corresponding arrangement receiving ends of adjacent base arrangement retaining strands are defined. The arrangement receiving ends with corresponding connection relationships are combined according to their mutual correspondence, so that each group of arrangement receiving ends corresponds to the same connection position, forming a receiving end corresponding group, thus establishing a unified corresponding object for subsequent connection relationship analysis.

[0040] The alignment and bonding relationships between the receiving ends are continuously monitored. The continuous correspondence of base arrangements between adjacent receiving ends and the adhesion relationship of the alignment boundaries are statistically analyzed. The bonding and bonding state between each receiving end is determined based on the changes in the continuous correspondence between the receiving ends. When the bonding position between the receiving ends continuously adjusts along the base arrangement direction, the continuous change trajectory of the bonding position is recorded. This continuous change in bonding position forms a bonding migration process, reflecting the continuous migration of the alignment and bonding relationships between the maintaining chains of different base arrangements.

[0041] Continuous analysis of the correspondence between the arbitral acceptors during the migration process is conducted to detect the positions where the arbitral acceptors adjust from the original correspondence to the new correspondence, and these positions are defined as the re-correspondence positions. Once the arbitral acceptors have established a new correspondence, the continuous process of transitioning from the original correspondence to the new correspondence is defined as the arbitral evolution process. This arbitral evolution process fully describes the entire process of adjustment in the arbitral acceptor mode between adjacent base sequences.

[0042] Preferably, the process of detecting the bonding state between each array of bonding ends according to the corresponding group of bonding ends, and forming a bonding migration process based on the bonding state, includes: Based on the corresponding group of receiving ends, extract the interlocking area formed between adjacent receiving ends, and determine the interlocking outline based on the interlocking area; The process of changing the interlocking contour between adjacent receiving ends is detected based on the interlocking contour, and the interlocking trajectory is formed based on the process of changing the interlocking contour. The bonding and adhesion status between each bonding end is monitored based on the bonding and adhesion trajectory, and a bonding migration process is formed based on the bonding and adhesion status.

[0043] In one embodiment, a corresponding analysis is performed on adjacent receiving ends in each receiving end group to extract the base arrangement regions that maintain a continuous receiving relationship between adjacent receiving ends. The continuous base arrangement regions jointly covered by adjacent receiving ends are identified as arrangement chimera regions. Based on the continuous distribution of base arrangement within each arrangement chimera region, the boundary positions and extension ranges of the arrangement chimera regions are identified to determine the arrangement chimera contours corresponding to each arrangement chimera region, so that the arrangement chimera contours fully reflect the actual chimera range between adjacent receiving ends.

[0044] The positional changes of the interlocking profile are continuously detected along the extension direction of the adjacent receiving end. The movement direction, extension distance and coverage of the interlocking profile in the continuous base arrangement are statistically analyzed. Based on the continuous change relationship between the corresponding positions of the interlocking profile at each time, the interlocking trajectory is formed so that the interlocking trajectory reflects the continuous change path of the interlocking profile in the process of receiving the arrangement.

[0045] The correspondence between adjacent receiving ends is continuously monitored. Based on the movement of the fitting contour in the fitting trajectory, the continuous change in the contact position between the receiving ends is detected. When the fitting trajectory continues to extend continuously, it is determined that the receiving ends maintain a continuous contact state. When the fitting trajectory shifts or reconnects, it is determined that the contact state between the receiving ends has been adjusted. Based on the continuous change in the contact state, a contact migration process is formed, so that the contact migration process fully reflects the continuous migration of the contact relationship between the receiving ends from the original contact state to the new contact state.

[0046] Preferably, identifying structural fracture boundaries based on structural transition points and unified sequencing vectors includes: Using the structural transition point as the center, the structural splicing features formed by the base arrangement on both sides of the unified sequencing vector are extracted respectively, and the splicing range corresponding to the structural transition point is determined based on the structural splicing features. The splicing offset state between the splicing features of the two sides of the structure is detected based on the splicing range, and a boundary constraint area is formed based on the splicing offset state; Based on the boundary constraint region, the splicing convergence position of the structure on both sides of the structural transition point is defined, and the splicing convergence position is identified as the structural fracture boundary.

[0047] In one embodiment, a defined structural transition point is invoked, and each structural transition point is used as the analysis center. Continuous base arrangements are extracted from both sides of the structural transition point along the unified sequencing vector, while maintaining the original arrangement order of the base arrangements on both sides in the unified sequencing vector. Corresponding analysis is performed on the continuous base arrangements on both sides of the structural transition point, and the arrangement continuity, arrangement direction, and arrangement spacing between adjacent bases are statistically analyzed. Base arrangements that can maintain continuous continuity are combined to form corresponding structural splicing features, so that the structural splicing features reflect the actual splicing relationship between the base arrangements on both sides of the structural transition point.

[0048] The extension of each structural splicing feature along the unified sequencing vector is continuously monitored. The coverage of the continuous connection relationship between the two structural splicing features is analyzed. The splicing range corresponding to the structural transition point is defined based on the region where the two structural splicing features maintain a continuous correspondence. The splicing range covers the entire region where the two structural splicing features can form a continuous splicing relationship. Within the splicing range, the changes in the corresponding positions between the two structural splicing features are continuously monitored. The position, direction, and distance of deviation in the correspondence between the two structural splicing features are statistically analyzed. Based on the continuous deviation relationship, a splicing offset state is formed, which reflects the process of the structural splicing features gradually deviating from continuous connection.

[0049] The continuous distribution of splicing offset states within the splicing range is analyzed, and the coverage area where splicing offset states remain continuously is statistically analyzed. A boundary constraint zone is formed based on this continuously covered area, defining the range of positions where the splicing features of the structures on both sides continuously deviate from their original positions. Within this boundary constraint zone, changes in the correspondence between the splicing features of the structures on both sides are simultaneously monitored. When the splicing features of the structures on both sides gradually recover from continuous deviation to a stable connection, the position where the stable correspondence is re-established is recorded. When the splicing features of the structures on both sides gradually transition from continuous connection to continuous deviation, the position where the continuous connection ends is recorded. These two types of positions jointly define the splicing convergence position of the correspondence between the splicing features of the structures on both sides, and this convergence position is identified as the structural fracture boundary. The structural fracture boundary corresponds to the boundary position where the structural continuity terminates and a stable splicing relationship is re-established.

[0050] Preferably, detecting the splicing offset state between the splicing features of the two sides of the structure based on the splicing range, and forming a boundary constraint region based on the splicing offset state includes: The splicing positioning points of the structural splicing features on both sides are extracted along the splicing range, and splicing positioning groups are established according to the relative distribution between each splicing positioning point; The splicing positioning group detects the process of the bearing deviation between adjacent splicing positioning points, and the area where the bearing deviation continues to expand is determined as the splicing offset state; The aggregation range of the splicing positioning group is limited according to the splicing offset state, and the aggregation range of the splicing positioning group is determined as the boundary constraint area.

[0051] In one embodiment, consecutive base positions characterizing the splicing relationship are extracted along the extension direction of the splicing features on both sides within the splicing range, and each consecutive base position is used as the splicing location point of the corresponding structural splicing feature. Based on the arrangement position of each splicing location point in the unified sequencing vector and its correspondence, the splicing location points in the structural splicing features on both sides are matched one-to-one, so that splicing location points with continuous succession relationships form a correspondence. And splicing location groups are established according to the relative distribution between each splicing location point, so that each splicing location group corresponds to a set of continuous splicing relationships in the structural splicing features on both sides.

[0052] The correspondence between adjacent splicing positioning points within a group is continuously detected. The positional changes between adjacent splicing positioning points are compared sequentially along the splicing range, and the changes in corresponding distances, arrangement directions, and relative positions between adjacent splicing positioning points are statistically analyzed. When the correspondence between adjacent splicing positioning points gradually deviates from its stable state, and the degree of deviation continuously increases along the splicing range, the trajectory of the deviation relationship between each splicing positioning point is recorded. The continuous change process from stable connection to continuous deviation is defined as the connection deviation process. Each connection deviation process is continuously analyzed. When the connection deviation range continuously expands to both sides along the splicing range, and new splicing positioning points continuously participate in the connection deviation, the area covered by the continuous expansion of the connection deviation is defined as the splicing offset state. This splicing offset state reflects the actual area where the overall splicing relationship between the splicing features of the two structural sides has deviated.

[0053] The distribution of each splicing positioning group within the splicing offset state is statistically analyzed. The concentration and continuous distribution range of each splicing positioning point within the splicing offset state are analyzed, and the aggregation range of the corresponding splicing positioning group is defined based on the splicing positioning points that maintain a continuous aggregation relationship. When splicing positioning points are continuously concentrated in the same area, the corresponding area is taken as the aggregation range of the splicing positioning group; when splicing positioning points gradually move away from the aggregation area, the maximum coverage area that maintains a continuous aggregation relationship is taken as the aggregation range of the splicing positioning group. Based on the aggregation range formed by each splicing positioning group, the location range where the splicing features of the two sides of the structure continuously offset and maintain stable constraints is determined. This location range is defined as the boundary constraint area, which covers the continuous area where the structural splicing features transition from a stable splicing relationship to an offset splicing relationship.

[0054] Of particular importance, step S3 includes: Based on the structural continuity chain, the corresponding structural continuity segments between continuous crossing areas are divided, and structural continuity segments with the same continuity direction and continuous extension relationship are merged to form structural continuity units. The structural connection status between each structural connection segment is detected based on the structural connection unit, and the structural rearrangement area formed by multiple structural connection segments is identified based on the structural connection status. The signal support distribution of each structural segment within the structural rearrangement region is detected along the continuous signal trajectory, and corresponding variant support chains are formed based on the signal support distribution.

[0055] In one embodiment, the extension paths of each structural connecting chain between consecutive crossing areas are analyzed. Based on the entry position, exit position, and connecting direction of the structural connecting chain when passing through each consecutive crossing area, the structural connecting chain is segmented, so that each segment of the structural path located between adjacent consecutive crossing areas and maintaining a continuous connecting relationship forms a corresponding structural connecting segment. The connecting direction and continuous extension relationship of each structural connecting segment are compared, and it is statistically determined whether the extension direction of each structural connecting segment is consistent between consecutive crossing areas, whether the extension path remains continuous, and whether there is a continuous connection relationship between adjacent structural connecting segments. When multiple structural connecting segments have the same connecting direction and maintain a continuous extension relationship between consecutive crossing areas, the corresponding multiple structural connecting segments are merged to form the same structural connecting unit, so that the structural connecting unit corresponds to a set of continuous structural paths with common connecting characteristics.

[0056] Continuous detection is performed on the connection relationships between structural segments belonging to the same structural continuity unit. The structural information continuity between adjacent structural continuity segments is analyzed, and the consistency of the continuity direction, the correspondence of structural connection positions, and the continuity of structural extension relationships among structural continuity segments are statistically analyzed. Based on the above analysis results, the structural continuity status between each structural continuity segment is determined. When multiple structural continuity segments maintain a stable structural continuity relationship, the corresponding structural continuity segments are determined to continuously participate in the same structural region. When the structural continuity relationships between multiple structural continuity segments are reorganized and new structural connection relationships are formed between continuous crossing areas, the structural rearrangement area jointly formed by multiple structural continuity segments is identified based on the corresponding structural continuity status, so that the structural rearrangement area covers the continuous area where multiple structural continuity segments jointly undergo structural adjustment.

[0057] Continuous signal data covering the structural rearrangement area is extracted along continuous signal trajectories. Based on the extension order of the continuous signal trajectories within the structural rearrangement area, the continuous signal coverage corresponding to each structural segment is statistically analyzed. The coverage position, length, and continuity of the continuous signal trajectories for each structural segment are analyzed to form the signal support distribution corresponding to each structural segment. When multiple continuous signal trajectories jointly cover the same structural segment, and a continuous correspondence is maintained between the continuous signal trajectories, the corresponding signal support information is integrated. Based on the integrated signal support distribution, a corresponding variant support chain is established, allowing the variant support chain to continuously record the signal support relationships obtained by each structural segment within the structural rearrangement area.

[0058] Of particular importance is the detection of signal support distribution along the continuous signal trajectory for each structurally connected segment within the structural rearrangement region, and the formation of corresponding variant support chains based on the signal support distribution, including: The coverage range of long read lengths that run through the structural rearrangement area is divided along the continuous signal trajectory, and the coverage overlap area is formed according to the overlap between the coverage ranges of each long read length; The coverage continuity between the coverage areas of each long read length is analyzed based on the coverage overlap area, and the coverage continuation is formed based on the coverage continuity, and the common coverage area is formed based on the coverage continuation. Based on the common coverage area, the structural rearrangement information corresponding to the coverage range of each long read length is integrated, and the variant support chain is formed based on the integrated structural rearrangement information.

[0059] In one embodiment, the corresponding long read length sequence is extracted along the continuous signal trajectory covering the structure rearrangement area. Based on the start position, end position and continuous coverage relationship of each long read length in the structure rearrangement area, the coverage range corresponding to each long read length is divided so that each long read length coverage range corresponds to a continuous coverage area in the continuous signal trajectory that can completely cover the structure rearrangement area. Pairwise correspondence analysis is performed on each long read length coverage range to detect the overlap position and overlap length between different long read length coverage ranges. When two or more long read length coverage ranges maintain a continuous overlap relationship in the structure rearrangement area, the corresponding continuous overlap area is determined as the coverage overlap area, so that the coverage overlap area reflects the continuous coverage range of multiple long read lengths jointly covering the same structural area.

[0060] The coverage relationship of each long-read coverage range within the coverage overlap area is continuously analyzed. The continuous changes in the entry, maintenance, and exit of each long-read coverage range into the coverage overlap area are detected along the continuous signal trajectory. The degree of continuity, coverage extension direction, and coverage interruption location of the coverage relationship between each long-read coverage range are statistically analyzed. When multiple long-read coverage ranges can maintain a continuous coverage relationship and extend together along the continuous signal trajectory, the corresponding coverage relationship is determined as coverage continuity. Based on coverage continuity, coverage continuation is formed, reflecting the maintenance status of the continuous coverage relationship between multiple long-read coverage ranges. Each coverage continuation is merged and analyzed. Coverage continuation with the same coverage extension direction and maintaining a continuous coverage relationship is integrated to form a common coverage area, which corresponds to a continuous area that multiple long-read ranges can continuously cover together.

[0061] A unified analysis is performed on the coverage areas of each long read length participating in the common coverage area. Structural rearrangement information corresponding to each long read length's coverage area is extracted. The structural break locations, structural continuity relationships, structural rearrangement locations, and arrangement changes of each long read length within the structural rearrangement area are statistically analyzed. A correspondence is established between the structural rearrangement information of each long read length based on the common coverage area. Structural rearrangement information from different long read length coverage areas is integrated, retaining structural rearrangement information supported by multiple long read lengths and eliminating isolated structural information generated by a single long read length, ensuring that the integrated structural rearrangement information maintains a continuous and consistent support relationship. A variation support chain is established based on the integrated structural rearrangement information. This variation support chain sequentially associates structural rearrangement information in each common coverage area according to the extension order of the continuous signal trajectory, thus forming a complete support chain capable of continuously supporting the same structural variation event.

[0062] The present invention also provides a processing system for sequencing data, used to perform the processing method for sequencing data as described above, the processing system for sequencing data comprising: The signal trajectory establishment module 101 is used to construct a continuous signal trajectory based on the raw sequencing data output by the sequencing device, and to uniformly convert the continuous signal trajectory according to the preset signal encoding rules in the sequencing device to form a unified sequencing vector; based on the unified sequencing vector, the continuous crossing region formed by the continuous coverage of long reads is determined, and the mapping constraint between the continuous signal trajectory and the continuous crossing region is established. The structural fracture location determination module 102 is used to determine the structural fracture location within the continuous crossing zone based on the mapping constraints, and to establish a structural through chain that crosses different continuous crossing zones based on the structural fracture location. The correlation analysis module 103 is used to perform correlation analysis on the continuous state of the structure between the continuous crossing areas based on the structural through chain, determine the structural rearrangement area, and construct a variable support chain for the continuous support state of the structural rearrangement area using continuous signal trajectories. The artificial intelligence analysis module 104 is used to perform consistency verification on the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, calculate the structural variant confidence level in combination with the unified sequencing vector, and generate sequencing analysis results based on the structural variant confidence level.

[0063] The above description is merely a specific embodiment of the present invention, enabling those skilled in the art to understand or implement the invention. Various modifications to these embodiments will be readily apparent to those skilled in the art, and the general principles defined herein may be implemented in other embodiments without departing from the spirit or scope of the invention. Therefore, the present invention is not to be limited to the embodiments shown herein, but is to be accorded the widest scope consistent with the principles and novel features of the invention herein.

Claims

1. A method for processing sequencing data, characterized in that, When applied to sequencing equipment, the following steps are included: Step S1: Construct a continuous signal trajectory based on the raw sequencing data output by the sequencing device, and perform a unified conversion on the continuous signal trajectory in accordance with the preset signal encoding rules in the sequencing device to form a unified sequencing vector; determine the continuous crossing region formed by the continuous coverage of long reads based on the unified sequencing vector, and establish the mapping constraint between the continuous signal trajectory and the continuous crossing region. Step S2: Determine the structural fracture location within the continuous spanning zone based on the mapping constraints, and establish a structural continuity chain spanning different continuous spanning zones based on the structural fracture location; Step S3: Based on the structural continuity chain, perform correlation analysis on the continuous state of the structure between the continuous crossing areas, determine the structural rearrangement area, and use the continuous signal trajectory to construct a variable support chain for the continuous support state of the structural rearrangement area. Step S4: Perform consistency verification on the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, and calculate the structural variant confidence level in combination with the unified sequencing vector. Generate sequencing analysis results based on the structural variant confidence level.

2. The method for processing sequencing data according to claim 1, characterized in that, Step S2 includes: Based on mapping constraints, the continuous change trend in the continuous crossing area is detected along the continuous signal trajectory, and the continuous signal segment is divided according to the continuous change trend; The location of transitions in a continuous trend along a continuous signal segment is detected, and the structural transition point is determined by combining the base arrangement changes in the unified sequencing vector. Structural fracture boundaries are identified based on structural transition points and a unified sequencing vector. Based on the structural fracture boundary detection, the structural continuity trend between adjacent continuous crossing areas is detected, and the structural continuity direction is determined according to the structural continuity trend. Connect the structural fracture boundaries in adjacent continuous spanning areas along the structural continuity direction to form a structural continuity chain.

3. The method for processing sequencing data according to claim 2, characterized in that, Detecting the location of transitions along continuous signal segments and determining structural transition points by combining base arrangement changes in the unified sequencing vector includes: The local variation amplitude of the continuous signal trajectory is detected along the continuous signal segment, and the signal transition zone is determined based on the position where the local variation amplitude continuously exceeds the preset variation range; In the signal transition region, the position where the continuous signal trajectory enters a stable state from continuous change and the position where it exits the stable state are detected, and the structural transition range is defined based on the entry and exit positions. Based on the structural transition range, the continuous distribution of base arrangement changes in the unified sequencing vector within the structural transition range is detected, and the structural transition point is determined based on the continuous distribution.

4. The method for processing sequencing data according to claim 3, characterized in that, The continuous distribution of base arrangement changes within the structural transition range in a unified sequencing vector, based on the structural transition range, includes: Based on the range of structural transitions, the range of continuous arrangement of bases in the unified sequencing vector is defined, and the base arrangement that maintains continuous arrangement within the range of continuous arrangement is defined as the base arrangement holding strand. Based on the arrangement continuity characteristics between adjacent bases, the arrangement evolution process of changing the continuity of base arrangement is identified, and arrangement recombination relationship is established based on the arrangement evolution process; The degree of continuity of base arrangement within the structural transition range is detected based on the arrangement and recombination relationship, and the continuous distribution state of base arrangement changes within the structural transition range is determined based on the degree of continuity.

5. The method for processing sequencing data according to claim 4, characterized in that, Based on the arrangement continuity characteristics between adjacent bases maintaining the chain, the arrangement evolution process of changing base arrangement continuity is identified, and arrangement recombination relationships are established based on the arrangement evolution process, including: Based on the base arrangement composition of adjacent base arrangement retaining strands at the connection position, identify the arrangement succession characteristics between adjacent base arrangement retaining strands; Based on the characteristics of arrangement and acceptance, the process of change in the arrangement and acceptance mode between adjacent bases is detected, and the process of change in the arrangement and acceptance mode is determined as the arrangement evolution process; The reconstruction results of the permutation inheritance characteristics are determined based on the permutation evolution process, and permutation recombination relationships are established based on the reconstruction results of the permutation inheritance characteristics.

6. The method for processing sequencing data according to claim 5, characterized in that, Based on the detection of the arrangement and succession characteristics, the process of change in the arrangement and succession mode between adjacent bases is maintained, and the process of change in the arrangement and succession mode is determined as the arrangement evolution process, including: Based on the arrangement and acceptance characteristics, the arrangement and acceptance ends corresponding to the adjacent base arrangement retaining chains are defined, and corresponding groups of acceptance ends are formed according to the arrangement and acceptance ends; The bonding and adhesion status between each set of bonding ends is detected according to the corresponding group of bonding ends, and the bonding and adhesion status is used to form a bonding migration process. Based on the receiving and migration process, the position where the receiving end of the arrangement re-corresponds is determined, and the re-correspondence process of the receiving end of the arrangement is determined as the arrangement evolution process.

7. The method for processing sequencing data according to claim 6, characterized in that, The process of detecting the bonding state between each row of bonding ends according to the corresponding group of bonding ends, and forming a bonding migration process based on the bonding state, includes: Based on the corresponding group of receiving ends, extract the interlocking area formed between adjacent receiving ends, and determine the interlocking outline based on the interlocking area; The process of changing the interlocking contour between adjacent receiving ends is detected based on the interlocking contour, and the interlocking trajectory is formed based on the process of changing the interlocking contour. The bonding and adhesion status between each bonding end is monitored based on the bonding and adhesion trajectory, and a bonding migration process is formed based on the bonding and adhesion status.

8. The method for processing sequencing data according to claim 2, characterized in that, Identifying structural break boundaries based on structural transition points and unified sequencing vectors includes: Using the structural transition point as the center, the structural splicing features formed by the base arrangement on both sides of the unified sequencing vector are extracted respectively, and the splicing range corresponding to the structural transition point is determined based on the structural splicing features. The splicing offset state between the splicing features of the two sides of the structure is detected based on the splicing range, and a boundary constraint area is formed based on the splicing offset state; Based on the boundary constraint region, the splicing convergence position of the structure on both sides of the structural transition point is defined, and the splicing convergence position is identified as the structural fracture boundary.

9. The method for processing sequencing data according to claim 8, characterized in that, The splicing offset state between the splicing features of the two sides of the structure is detected based on the splicing range, and a boundary constraint region is formed based on the splicing offset state, including: The splicing positioning points of the structural splicing features on both sides are extracted along the splicing range, and splicing positioning groups are established according to the relative distribution between each splicing positioning point; The splicing positioning group detects the process of the bearing deviation between adjacent splicing positioning points, and the area where the bearing deviation continues to expand is determined as the splicing offset state; The aggregation range of the splicing positioning group is limited according to the splicing offset state, and the aggregation range of the splicing positioning group is determined as the boundary constraint area.

10. A system for processing sequencing data, characterized in that, The system for processing sequencing data as described in claim 1, used to perform the processing method for sequencing data, comprises: The signal trajectory establishment module is used to construct continuous signal trajectories based on the raw sequencing data output by the sequencing device, and to uniformly convert the continuous signal trajectories according to the preset signal encoding rules in the sequencing device to form a unified sequencing vector; based on the unified sequencing vector, the continuous crossing regions formed by the continuous coverage of long reads are determined, and the mapping constraints between the continuous signal trajectories and the continuous crossing regions are established. The structural fracture location determination module is used to determine the structural fracture location within a continuous spanning zone based on mapping constraints, and to establish a structural continuity chain spanning different continuous spanning zones based on the structural fracture location. The correlation analysis module is used to perform correlation analysis on the continuous state of the structure between continuous crossing areas based on the structural through chain, determine the structural rearrangement area, and construct a variable support chain based on the continuous support state of the structural rearrangement area using continuous signal trajectories. The artificial intelligence analysis module is used to verify the consistency of the structural rearrangement region based on the variant support chain, input the consistency verification result into the preset artificial intelligence analysis unit, and calculate the structural variant confidence level in combination with the unified sequencing vector, and generate sequencing analysis results based on the structural variant confidence level.

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