CN110265086A - Gene detection method and device - Google Patents
Gene detection method and device Download PDFInfo
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- CN110265086A CN110265086A CN201910600133.5A CN201910600133A CN110265086A CN 110265086 A CN110265086 A CN 110265086A CN 201910600133 A CN201910600133 A CN 201910600133A CN 110265086 A CN110265086 A CN 110265086A
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- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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Abstract
The application provides a gene detection method and a gene detection device, wherein the method comprises the following steps: acquiring a fastq file corresponding to a target gene fragment; carrying out mutation detection on the fastq file by utilizing a reference gene group so as to determine the position of the target gene segment where gene mutation occurs; the method can detect whether the position where the gene mutation occurs really has the gene mutation or is caused by false detection, thereby being beneficial to improving the accuracy of a detection result and accurately determining which positions in the target gene really have the gene mutation, and further providing accurate data by subsequent processing.
Description
Technical field
This application involves field of computer technology, in particular to a kind of gene tester and device.
Background technique
With the development of gene sequencing technology, the cost of gene sequencing is lower and lower, these largely promote and grind
Study carefully research of the personnel to hereditary tumor.In practical sequencing procedure, need to detect the position that gene mutation occurs in gene, but
Be in the prior art testing result it is possible that mistake, such as: since Equipment or operating error lead to that gene does not occur
The position of mutation also detects gene mutation, to reduce the accuracy rate of testing result.
Summary of the invention
In view of this, the embodiment of the present application is designed to provide a kind of gene tester and device, to improve gene
The accuracy rate of testing result.
In a first aspect, the embodiment of the present application provides a kind of gene tester, comprising:
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, to send out in the determination target gene segment
The position of raw gene mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, to determine the position
On the reason of detecting gene mutation.
It is optionally, described to be detected using the repetition for carrying out preset times to the fastq file with reference to genome, comprising:
According to the preset times, the fastq file is replicated, to obtain fastq file group；
Each fastq file in the fastq file group is detected with reference to genome using described.
Optionally, after using the repetition detection for carrying out preset times to the fastq file with reference to genome,
The gene tester further include:
According to testing result is repeated, each base in the target gene segment is marked, according to the label
Determine the direction that the position of gene mutation occurs in the target gene segment, gene mutation occurs in the target gene segment
With the position that error detection occurs in the target gene segment.
Optionally, the method also includes:
The base in the fastq file group is carried out based on the label in each base in the target gene segment
Mutation correction, is corrected to base corresponding to correspondence markings for the base in the fastq file group.
Optionally, the method also includes:
Gene occurs according in the position and the target gene segment that gene mutation occurs in the target gene segment
The direction of mutation carries out hereditary tumor disease explanatory notes to base in this position.
Second aspect, the embodiment of the present application also provides a kind of gene assaying devices, comprising:
Acquiring unit, for obtaining the corresponding fastq file of target gene segment；
Determination unit, for carrying out abrupt climatic change to the fastq file using with reference to genome, with the determination target
The position of gene mutation occurs in genetic fragment；
Detection unit, for being detected using the repetition for carrying out preset times to the fastq file with reference to genome,
To determine the reason of detecting gene mutation in this position.
Optionally, the configuration of the detection unit for it is described using with reference to genome to the fastq file into
When the repetition detection of row preset times, comprising:
According to the preset times, the fastq file is replicated, to obtain fastq file group；
Each fastq file in the fastq file group is detected with reference to genome using described.
Optionally, the gene assaying device further include:
Marking unit, for being examined using the repetition for carrying out preset times to the fastq file with reference to genome
After survey, according to testing result is repeated, each base in the target gene segment is marked, with true according to the label
Occur in the fixed target gene segment position of gene mutation, occur in the target gene segment gene mutation direction and
The position of error detection occurs in the target gene segment.
Optionally, the gene assaying device further include:
Correct unit, for based on the label in each base in the target gene segment to the fastq file group
In the base carry out mutation correction, the base in the fastq file group is corrected to alkali corresponding to correspondence markings
Base.
Optionally, the gene assaying device further include:
Annotation unit, for according to the position and the target gene piece that gene mutation occurs in the target gene segment
The direction that gene mutation occurs in section carries out hereditary tumor disease explanatory notes to base in this position.
The third aspect, the embodiment of the present application also provides a kind of electronic equipment, comprising: processor, storage medium and bus,
The storage medium is stored with the executable machine readable instructions of the processor, when electronic equipment operation, the processor
By bus communication between the storage medium, the processor executes the machine readable instructions, to execute following steps:
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, to send out in the determination target gene segment
The position of raw gene mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, to determine the position
On the reason of detecting gene mutation.
Fourth aspect, the embodiment of the present application also provides a kind of computer readable storage medium, the computer-readable storages
Computer program is stored on medium, which executes following steps when being run by processor:
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, to send out in the determination target gene segment
The position of raw gene mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, to determine the position
On the reason of detecting gene mutation.
The technical solution that embodiments herein provides can include the following benefits:
In this application, after obtaining the corresponding fastq file of target gene segment, the fastq file pair can be passed through
Target gene is sequenced, and when target gene is sequenced, be can use and is dashed forward with reference to genome to the fastq file
Become detection, so that it is determined that the position of gene mutation occurs in target gene, out in order to improve the accuracy rate of abrupt climatic change, Ke Yili
It is detected with the repetition that reference genome carries out preset times to the fastq file, detects that gene is prominent in this position to determine
The reason of change, it may be assumed that repeated detection is carried out to fastq file using with reference to genome, is with the determining position that gene mutation occurs
Gene mutation really has occurred, or due to caused by Equipment, operating error or environmental factor caused by erroneous detection, pass through
The above method, can detecte out that the position of gene mutation occurs is that gene mutation really has occurred, or as caused by erroneous detection,
Which to be conducive to improve the accuracy of testing result, and be conducive to accurately determine in target gene really occur on position
Gene mutation, so that subsequent processing provides accurate data.
To enable the above objects, features, and advantages of the application to be clearer and more comprehensible, preferred embodiment is cited below particularly, and cooperate
Appended attached drawing, is described in detail below.
Detailed description of the invention
Technical solution in ord to more clearly illustrate embodiments of the present application, below will be to needed in the embodiment attached
Figure is briefly described, it should be understood that the following drawings illustrates only some embodiments of the application, therefore is not construed as pair
The restriction of range for those of ordinary skill in the art without creative efforts, can also be according to this
A little attached drawings obtain other relevant attached drawings.
Fig. 1 is a kind of flow diagram for gene tester that the embodiment of the present application one provides；
Fig. 2 is the flow diagram of another gene tester provided by the embodiments of the present application；
Fig. 3 is a kind of structural schematic diagram for gene assaying device that the embodiment of the present application two provides；
Fig. 4 is the structural schematic diagram for another gene assaying device that the embodiment of the present application two provides；
Fig. 5 is the structural schematic diagram for another gene assaying device that the embodiment of the present application two provides；
Fig. 6 is the structural schematic diagram for another gene assaying device that the embodiment of the present application two provides；
Fig. 7 is the structural schematic diagram for a kind of electronic equipment that the embodiment of the present application three provides.
Specific embodiment
To keep the purposes, technical schemes and advantages of the embodiment of the present application clearer, below in conjunction with the embodiment of the present application
Middle attached drawing, the technical scheme in the embodiment of the application is clearly and completely described, it is clear that described embodiment is only
It is some embodiments of the present application, instead of all the embodiments.The application being usually described and illustrated herein in the accompanying drawings is real
The component for applying example can be arranged and be designed with a variety of different configurations.Therefore, below to the application's provided in the accompanying drawings
The detailed description of embodiment is not intended to limit claimed scope of the present application, but is merely representative of the selected reality of the application
Apply example.Based on embodiments herein, those skilled in the art institute obtained without making creative work
There are other embodiments, shall fall in the protection scope of this application.
Embodiment one
Fig. 1 is a kind of flow diagram for gene tester that the embodiment of the present application one provides, as shown in Figure 1, the base
Because detection method includes the following steps:
Step 101 obtains the corresponding fastq file of target gene segment.
Step 102 carries out abrupt climatic change to the fastq file using reference genome, with the determination target gene
The position of gene mutation occurs in segment.
Step 103 is detected using the repetition for carrying out preset times to the fastq file with reference to genome, with true
Fixed the reason of detecting gene mutation in this position.
Specifically, a complete genome by two generation sequencing technologies processing after, available multiple genetic fragments
Sequence, and each gene fragment order includes three parts: tag data, genetic fragment itself and tail data, wherein connect
Head data and tail data are the readings for the ease of genetic fragment itself, it may be assumed that tag data is used to indicate genetic fragment itself
Be since which position of gene fragment order, tail data be used to indicate genetic fragment itself be from gene fragment order which
What a position terminated, it needs to carry out data purification to the gene fragment order to obtain the genetic fragment itself, it may be assumed that obtain base
Because of the data of segment itself, after the processing of two generation sequencing technologies and data purification, the data of obtained genetic fragment itself
Including four parts: for indicating the mark of position of the genetic fragment in complete genome, the direction of base fragment, base fragment
With for indicating whether base is correctly worth, this four part constitutes a kind of corresponding fastq file (storage of the genetic fragment itself
Biological sequence (usually nucleic acid sequence) and the text formatting of corresponding quality evaluation), it is carried out to complete genome
When the processing of two generation sequencing technologies, since the factors such as reagent concentration, temperature, experimenter may be such that genetic fragment is missed
Difference or mistake need to carry out obtained genetic fragment quality evaluation to improve accuracy when genetic test, such as: it can
To carry out multiple two generations sequencing technologies processing and data purification to a complete genome, then multiple processing results are carried out
It is compared to each other, such as: ten two generation sequencing technologies processing and data purification being carried out to a complete genome, to obtain ten
Then processing result is compared ten processing results, for the base on a certain position, use ten in this position
Base is compared, and when there is 8 (particular number can be set according to actual needs) bases identical, indicates that the base is
Correct base, when the base for having 2 or more (particular number can be set according to actual needs) is not identical, indicating should
Base is that the base of mistake carries out above-mentioned comparison to 150 bases one by one when a genetic fragment has 150 bases,
The base for having 90% (particular number can be set according to actual needs) or more in determining the genetic fragment is correct
Base when, indicate the genetic fragment be it is accurate, when the genetic fragment have 10% or more base be mistake base when, table
Show that the genetic fragment is not available genetic fragment, needs to abandon, such as: can pass through formula: Q=-10log (P/1-P) comes
Gene quality is assessed, wherein P is all base ratio of number in false bases quantity and the genetic fragment, is being passed through
The corresponding fastq file of available correct genetic fragment after above-mentioned processing, and can be corresponding by correct genetic fragment
Fastq file as the corresponding fastq file of target gene segment.
It is the genome of one group of standard with reference to genome, can be used as the standard of genetic test with reference to genome, passes through ginseng
Examining genome can detecte out whether a certain gene goes wrong, after obtaining target gene segment, using referring to genome
Fastq file corresponding to target gene segment carries out abrupt climatic change, and gene mutation occurs to determine in the target gene segment
Position, it may be assumed that in gene occur lesion position can use to improve the accuracy rate of abrupt climatic change with reference to genome pair
The fastq file carries out the repetition detection of preset times, to determine the reason of detecting gene mutation in this position, it may be assumed that benefit
Repeated detection is carried out to fastq file with reference genome, to determine that it is that gene really has occurred that the position of gene mutation, which occurs,
Mutation, or due to caused by Equipment, operating error or environmental factor caused by erroneous detection can be with by the above method
The position for detecting that gene mutation occurs is that gene mutation really has occurred, or as caused by erroneous detection, to be conducive to mention
The accuracy of high detection result, and be conducive to accurately determine in target gene gene mutation really has occurred on which position,
To which subsequent processing provides accurate data.
In a feasible embodiment, Fig. 2 is the stream of another gene tester provided by the embodiments of the present application
Journey schematic diagram, as shown in Fig. 2, can be realized by following steps when executing step 102:
Step 201, according to the preset times, the fastq file is replicated, to obtain fastq file group.
Step 202 detects each fastq file in the fastq file group with reference to genome using described.
For example, in order to determine that the gene mutation that detected is gene mutation really to have occurred or due to other originals
The erroneous detection because caused by needs to replicate fastq file ten times according to preset times (such as ten times), so as to obtain ten groups of mesh
Mark the corresponding fastq file of genetic fragment, it may be assumed that then fastq file group is recycled with reference to genome according to the successive suitable of base
Ordered pair ten groups of fastq files are detected.
In ten groups of fastq files, there is 8 groups or more of (particular number can be set according to actual needs)
The gene mutation is all detected in fastq file, then illustrates that the gene mutation is genuine gene mutation, when there are 8 groups or more
The gene mutation is all not detected in fastq file, illustrates that the gene mutation is since the factors such as equipment or detection environment cause
, so as to according to repeat detection result determine the gene mutation detected the reason of.
In a feasible embodiment, after executing the step 103, which can also be according to weight
Reinspection is surveyed as a result, each base in the target gene segment is marked, to determine the target base according to the label
Because the position of gene mutation occurs in segment, occur in the target gene segment gene mutation direction and the target gene
The position of error detection occurs in segment.
Specifically, after repeating to detect, the reason of can determining the gene mutation detected, it may be assumed that the gene
Gene mutation really has occurred, or due to caused by error detection, if gene mutation really has occurred, by then passing through ginseng
Examine what genome detection arrived, thus may determine that going out former base mutation for which kind of base, it may be assumed that can determine gene mutation
Direction, if it is error detection caused by, then can also determine in genetic fragment occur error detection position, for side
Just subsequent processing, according to testing result is repeated, is marked each base in target gene segment after obtaining repeating testing result
Note occurs the position of gene mutation, gene occurs in target gene segment to be determined according to the label in target gene segment
The position of error detection occurs in the direction and goal genetic fragment of mutation.
In a feasible embodiment, after each base in target gene segment is marked, based on described
The label in each base in target gene segment carries out mutation correction to the base in the fastq file group, by institute
The base stated in fastq file group is corrected to base corresponding to correspondence markings.
Specifically, when carrying out the processing of two generation sequencing technologies and data purification, due to the limitation of technology, many base meetings
It is compared by mistake onto genome, while these base quality are also not accurate, so in order to guarantee acquired variant sites
Accuracy needs to be corrected base quality.Specifically, the purpose that the base mass value of sequence re-calibrates is to make finally
The mass value of series can be more nearly the probability of the really mispairing between reference genome in the file of output.Example
Such as, before series mass value is corrected, to retain the higher gene of mass value, but the gene actually remained
In there are still vicious genes, that is to say, that there are still low-quality genes in the gene of reservation, thus can be to subsequent
The confidence level of variation detection impacts.In order to be corrected to mistake, so that subsequent processing is (subsequent to will use fastq
File group), it needs to be mutated the base in fastq file group using the label in each base in target gene segment
Correction, is corrected to base corresponding to correspondence markings for the base in fastq file group.
In a feasible embodiment, according to repeat testing result, to each alkali in the target gene segment
It, can be according in the position and the target gene segment that gene mutation occurs in the target gene segment after base is marked
The direction that gene mutation occurs carries out hereditary tumor disease explanatory notes to base in this position.
Specifically, the purpose detected to gene is the relationship for definitive variation and disease, so to target base
After being marked because of each base in segment, the label can be determined the use of, hereditary tumor disease is carried out to base in this position
Explanatory notes, so as to subsequent processing.
Embodiment two
Fig. 3 is a kind of structural schematic diagram for gene assaying device that the embodiment of the present application two provides, as shown in figure 3, the base
Because detection device includes:
Acquiring unit 31, for obtaining the corresponding fastq file of target gene segment；
Determination unit 32, for carrying out abrupt climatic change to the fastq file using with reference to genome, with the determination mesh
Mark the position that gene mutation occurs in genetic fragment；
Detection unit 33, for being examined using the repetition for carrying out preset times to the fastq file with reference to genome
It surveys, to determine the reason of detecting gene mutation in this position.
In a feasible embodiment, genome is being referred to for described utilize in the configuration of the detection unit 33
When carrying out the repetition detection of preset times to the fastq file, comprising:
According to the preset times, the fastq file is replicated, to obtain fastq file group；
Each fastq file in the fastq file group is detected with reference to genome using described.
In a feasible embodiment, Fig. 4 is another gene assaying device that the embodiment of the present application two provides
Structural schematic diagram, as shown in figure 4, the gene assaying device further include:
Marking unit 34, for utilizing the repetition for carrying out preset times to the fastq file with reference to genome
After detection, according to testing result is repeated, each base in the target gene segment is marked, according to the label
Determine the direction that the position of gene mutation occurs in the target gene segment, gene mutation occurs in the target gene segment
With the position that error detection occurs in the target gene segment.
In a feasible embodiment, Fig. 5 is another gene assaying device that the embodiment of the present application two provides
Structural schematic diagram, as shown in figure 5, the gene assaying device further include:
Correct unit 35, for based on the label in each base in the target gene segment to the fastq file
The base in group carries out mutation correction, and the base in the fastq file group is corrected to corresponding to correspondence markings
Base.
In a feasible embodiment, Fig. 6 is another gene assaying device that the embodiment of the present application two provides
Structural schematic diagram, as shown in fig. 6, the gene assaying device further include:
Annotation unit 36, for according to the position and the target gene that gene mutation occurs in the target gene segment
The direction that gene mutation occurs in segment carries out hereditary tumor disease explanatory notes to base in this position.
In this application, after obtaining the corresponding fastq file of target gene segment, the fastq file pair can be passed through
Target gene is sequenced, and when target gene is sequenced, be can use and is dashed forward with reference to genome to the fastq file
Become detection, so that it is determined that the position of gene mutation occurs in target gene, out in order to improve the accuracy rate of abrupt climatic change, Ke Yili
It is detected with the repetition that reference genome carries out preset times to the fastq file, detects that gene is prominent in this position to determine
The reason of change, it may be assumed that repeated detection is carried out to fastq file using with reference to genome, is with the determining position that gene mutation occurs
Gene mutation really has occurred, or due to caused by Equipment, operating error or environmental factor caused by erroneous detection, pass through
The above method, can detecte out that the position of gene mutation occurs is that gene mutation really has occurred, or as caused by erroneous detection,
Which to be conducive to improve the accuracy of testing result, and be conducive to accurately determine in target gene really occur on position
Gene mutation, so that subsequent processing provides accurate data.
Embodiment three
Fig. 7 is the structural schematic diagram for a kind of electronic equipment that the embodiment of the present application three provides, comprising: processor 701, storage
Medium 702 and bus 703, the storage medium 702 include device as shown in Figure 3, and the storage medium 702 is stored with described
The executable machine readable instructions of processor 701, when electronic equipment runs above-mentioned localization method, the processor 701 with
Communicated between the storage medium 702 by bus 703, the processor 701 executes the machine readable instructions, with execute with
Lower step:
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, to send out in the determination target gene segment
The position of raw gene mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, to determine the position
On the reason of detecting gene mutation.
In the embodiment of the present application, other machine readable instructions can also be performed in the storage medium 702, strictly according to the facts to execute
Other methods in example one are applied, about the method and step and principle specifically executed referring to the explanation of embodiment one, herein not
It is described in detail again.
Example IV
The embodiment of the present application four additionally provides a kind of computer readable storage medium, deposits on the computer readable storage medium
Computer program is contained, which executes following steps when being run by processor:
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, to send out in the determination target gene segment
The position of raw gene mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, to determine the position
On the reason of detecting gene mutation.
In the embodiment of the present application, other machine readable fingers can also be performed when which is run by processor
It enables, to execute the method as described in other in embodiment one, about the method and step and principle specifically executed referring to embodiment one
Explanation, in this not go into detail.
Specifically, which can be general storage medium, such as mobile disk, hard disk, on the storage medium
Computer program when being run, due to carrying out repeated detection to fastq file using with reference to genome, gene occurs to determine
The position of mutation is gene mutation really to have occurred, or lead as caused by Equipment, operating error or environmental factor
The erroneous detection of cause, by the above method, can detecte out occur gene mutation position be gene mutation really has occurred, or by
Caused by erroneous detection, to be conducive to improve the accuracy of testing result, and which is conducive to accurately determine in target gene
Gene mutation really has occurred on position, so that subsequent processing provides accurate data.
The computer program product of data processing method provided by the embodiment of the present application, including storing program code
Computer readable storage medium, the instruction that program code includes can be used for executing the method in previous methods embodiment, specific real
Now reference can be made to embodiment of the method, details are not described herein.
It is apparent to those skilled in the art that for convenience and simplicity of description, the system of foregoing description
With the specific work process of device, the corresponding process in embodiment of the method can be referred to, is repeated no more in the application.In the application
In provided several embodiments, it should be understood that disclosed systems, devices and methods, it can be real by another way
It is existing.The apparatus embodiments described above are merely exemplary, for example, the division of the module, only a kind of logic function
It can divide, there may be another division manner in actual implementation, in another example, multiple module or components can combine or can collect
At another system is arrived, or some features can be ignored or not executed.Another point, shown or discussed mutual coupling
Conjunction or direct-coupling or communication connection can be the indirect coupling or communication connection by some communication interfaces, device or module,
It can be electrical property, mechanical or other forms.
The module as illustrated by the separation member may or may not be physically separated, aobvious as module
The component shown may or may not be physical unit, it can and it is in one place, or may be distributed over multiple
In network unit.It can select some or all of unit therein according to the actual needs to realize the mesh of this embodiment scheme
's.
It, can also be in addition, each functional unit in each embodiment of the application can integrate in one processing unit
It is that each unit physically exists alone, can also be integrated in one unit with two or more units.
It, can be with if the function is realized in the form of SFU software functional unit and when sold or used as an independent product
It is stored in the executable non-volatile computer-readable storage medium of a processor.Based on this understanding, the application
Technical solution substantially the part of the part that contributes to existing technology or the technical solution can be with software in other words
The form of product embodies, which is stored in a storage medium, including some instructions use so that
One computer equipment (can be personal computer, server or the network equipment etc.) executes each embodiment institute of the application
State all or part of the steps of method.And storage medium above-mentioned includes: USB flash disk, mobile hard disk, ROM, RAM, magnetic or disk
Etc. the various media that can store program code.
The above is only the protection scopes of the specific embodiment of the application, but the application to be not limited thereto, any to be familiar with
Those skilled in the art within the technical scope of the present application, can easily think of the change or the replacement, and should all cover
Within the protection scope of the application.Therefore, the protection scope of the application should be subject to the protection scope in claims.
Claims (10)
1. a kind of gene tester characterized by comprising
Obtain the corresponding fastq file of target gene segment；
Abrupt climatic change is carried out to the fastq file using reference genome, base occurs in the determination target gene segment
Because of the position of mutation；
It is detected using the repetition for carrying out preset times to the fastq file with reference to genome, is examined in this position with determination
The reason of measuring gene mutation.
2. gene tester as described in claim 1, which is characterized in that described to utilize with reference to genome to the fastq
File carries out the repetition detection of preset times, comprising:
According to the preset times, the fastq file is replicated, to obtain fastq file group；
Each fastq file in the fastq file group is detected with reference to genome using described.
3. gene tester as claimed in claim 2, which is characterized in that in the utilization reference genome to described
After fastq file carries out the repetition detection of preset times, the gene tester further include:
According to testing result is repeated, each base in the target gene segment is marked, to be determined according to the label
Direction and the institute that the position of gene mutation occurs in the target gene segment, gene mutation occurs in the target gene segment
State the position that error detection occurs in target gene segment.
4. gene tester as claimed in claim 3, which is characterized in that the method also includes:
The base in the fastq file group is mutated based on the label in each base in the target gene segment
Correction, is corrected to base corresponding to correspondence markings for the base in the fastq file group.
5. gene tester as claimed in claim 3, which is characterized in that the method also includes:
Gene mutation occurs according in the position and the target gene segment that gene mutation occurs in the target gene segment
Direction to base in this position carry out hereditary tumor disease explanatory notes.
6. a kind of gene assaying device characterized by comprising
Acquiring unit, for obtaining the corresponding fastq file of target gene segment；
Determination unit, for carrying out abrupt climatic change to the fastq file using with reference to genome, with the determination target gene
The position of gene mutation occurs in segment；
Detection unit, for being detected using the repetition for carrying out preset times to the fastq file with reference to genome, with true
Fixed the reason of detecting gene mutation in this position.
7. gene assaying device as claimed in claim 6, which is characterized in that the detection unit configuration for described
When being detected using the repetition that reference genome carries out preset times to the fastq file, comprising:
According to the preset times, the fastq file is replicated, to obtain fastq file group；
Each fastq file in the fastq file group is detected with reference to genome using described.
8. gene assaying device as claimed in claim 7, which is characterized in that the gene assaying device further include:
Marking unit, for detecting it using the repetition for carrying out preset times to the fastq file with reference to genome
Afterwards, according to testing result is repeated, each base in the target gene segment is marked, to determine institute according to the label
It states and the position of gene mutation occurs in target gene segment, the direction of gene mutation occurs in the target gene segment and described
The position of error detection occurs in target gene segment.
9. gene assaying device as claimed in claim 8, which is characterized in that the gene assaying device further include:
Correct unit, for based on the label in each base in the target gene segment in the fastq file group
The base carries out mutation correction, and the base in the fastq file group is corrected to base corresponding to correspondence markings.
10. gene assaying device as claimed in claim 8, which is characterized in that the gene assaying device further include:
Annotation unit, for according in the position and the target gene segment that gene mutation occurs in the target gene segment
The direction that gene mutation occurs carries out hereditary tumor disease explanatory notes to base in this position.
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