WO2020062001A1 - Gene detection method and gene detection system - Google Patents

Abstract

Disclosed is a gene detection method, comprising: transmitting gene data to be detected and gold standard gene data simultaneously to a gene detection program so that the gene detection program performs gene detection on the gene data to be detected and the gold standard gene data respectively to obtain a detection result of the gene data to be detected and a detection result of the gold standard gene data; comparing the detection result of the gold standard gene data with a preset standard detection result; if the comparison result is determined to be valid, determining that the gene detection program has produced a correct detection result in respect of the gene data to be detected; and if the comparison result is determined to be invalid, determining that the result of the gene data to be detected is incorrect.

Description

Gene detection method and gene detection system Technical field

The invention belongs to the field of gene detection, and particularly relates to a gene detection method and a gene detection system.

Background technique

A gene is the basic unit of heredity. DNA or RNA sequences that carry hereditary information are copied to transfer the hereditary information to the next generation, direct the synthesis of proteins to express hereditary information, and thus control the expression of traits of individual organisms. Gene detection is a technique for detecting DNA through blood, other body fluids, or cells. It takes the peripheral venous blood or other tissue cells of the subject, amplifies the gene information, and then uses specific equipment to detect the DNA molecules in the cells A method for testing and analyzing the type of genes and gene defects and whether their expression functions are normal, so that people can understand their genetic information, determine the cause or predict the risk of the body from a certain disease.

Existing genetic tests are prone to parameter changes during specific tests. For example, when a tester performs a genetic test, the previous tester has modified the relevant parameters of the test instrument, or has performed parameters for some test items. If a change is made without notification, the tester cannot know the specific modified parameters or items when performing the test. After the test result is obtained, it is also impossible to determine whether the test result is the correct result. If the test result is inconsistent with the previous one, then Every item and every detail needs to be checked, resulting in low detection efficiency.

technical problem

The technical problem to be solved by the present invention is to provide a gene detection method and a gene detection system, which aim to solve the problem that the current technology cannot effectively determine whether the detection result is correct when performing a genetic test.

Technical solutions

The present invention is implemented as such, and a method for gene detection includes:

The gene data to be detected and the gold standard gene data are sent to a gene detection program at the same time, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data to obtain the gene to be detected The test results and the test results of the gold standard genetic data;

Comparing the detection result of the gold standard gene data with a preset standard detection result;

If the comparison result is determined to be valid, it is determined that the detection result of the gene detection program on the genetic data to be detected is correct;

If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect.

Further, the step of simultaneously sending the gene data to be detected and the gold standard gene data to the gene detection program includes:

Package the genetic data to be detected with the gold standard genetic data to obtain a data package to be detected;

And sending the data packet to be detected to the gene detection program.

Further, the step of packaging the gene data to be detected with the gold standard gene data to obtain the data package to be detected includes:

Package the gene data to be detected and the gold standard gene data to obtain an initial data package;

Encrypting the initial data packet to obtain the data packet to be detected;

Then, the gene detection program performing the gene detection on the gene data to be detected and the gold standard gene data includes:

The gene detection program decrypts the data packet to be detected according to a decryption key to obtain the initial data packet;

Decompress the initial data packet to obtain the gene data to be detected and the gold standard gene data, and perform gene detection according to the gene data to be detected and the gold standard gene data.

Further, comparing the detection result of the gold standard gene data with a preset standard detection result includes:

Find the standard test result corresponding to the gold standard gene data in the standard test result list;

A comparison result is obtained by comparing the detection result of the gold standard gene data with the standard detection result obtained by the search.

Further, the step of determining whether the comparison result is valid includes:

Determining whether the similarity between the detection result of the gold standard gene data and the standard detection result is within a preset range;

If the similarity is within the preset range, determining that the comparison result is valid;

If the similarity is not within the preset range, it is determined that the comparison result is invalid.

Further, the gold standard genetic data includes at least one genetic test result data that is subjected to genetic test verification in advance.

An embodiment of the present invention further provides a gene detection system, including:

A detection unit, configured to simultaneously send the gene data to be detected and the gold standard gene data to a gene detection program, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data, respectively, to obtain the Describe the detection results of the genetic data to be detected and the detection results of the gold standard genetic data;

A comparison unit, configured to compare the detection result of the gold standard genetic data with a preset standard detection result, and if the comparison result is determined to be valid, determine that the gene detection program detects the genetic data to be detected The result is correct. If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect.

Further, the detection unit is specifically configured to:

Package the genetic data to be detected with the gold standard genetic data to obtain a data package to be detected;

And sending the data packet to be detected to the gene detection program.

Further, the detection unit is further configured to:

Package the gene data to be detected and the gold standard gene data to obtain an initial data package;

Encrypt the initial data packet, and send the data packet to be detected to the gene detection program, so that the gene detection program decrypts the data packet to be detected according to a decryption key to obtain the initial data packet, and Decompress the initial data packet to obtain the gene data to be detected and the gold standard gene data, and perform gene detection according to the gene data to be detected and the gold standard gene data.

Further, the comparison unit is further configured to:

Determine whether the similarity between the detection result of the gold standard gene data and the standard detection result is within a preset range, and if the similarity is within the preset range, determine that the comparison result is valid; if the If the similarity is not within the preset range, it is determined that the comparison result is invalid.

Beneficial effect

Compared with the prior art, the present invention has the beneficial effect that, when performing gene detection, the embodiment of the present invention sends the gene data to be detected and the gold standard gene data to the gene detection program, so that the gene detection program performs the gene data to be detected. At the same time as the detection, the gold standard gene data is also genetically tested to obtain the test result of the gold standard gene data and the gold standard gene data. The gold standard gene data detection result is compared with a preset standard test result. Yes, if the obtained comparison result is determined to be valid, it is determined that the detection result of the gene data to be detected is correct, and if it is not valid, it is determined that the detection result of the gene data to be detected is incorrect. In the embodiment of the present invention, when the genetic data to be detected is detected, the gold standard gene data that has been tested and verified in advance is also detected, and whether the result of the gene data to be tested is correct is determined according to the obtained gold standard gene data detection result. The present invention The embodiment can determine whether the detection result of the genetic data to be detected is correct based on the detection result of the gold standard genetic data. At the same time, because the gold standard genetic data is involved in the detection of each item, it can know which test item is the specific one. When problems occur, the incidence of errors is effectively avoided.

BRIEF DESCRIPTION OF THE DRAWINGS

FIG. 1 is a flowchart of a gene detection method according to an embodiment of the present invention;

FIG. 2 is a schematic structural diagram of a gene detection system according to an embodiment of the present invention.

Embodiments of the invention

In order to make the objectives, technical solutions, and advantages of the present invention clearer, the present invention is further described in detail below with reference to the accompanying drawings and embodiments. It should be understood that the specific embodiments described herein are only used to explain the present invention and are not intended to limit the present invention.

FIG. 1 illustrates a gene detection method provided by an embodiment of the present invention, including:

S101. Simultaneously send the gene data to be detected and the gold standard gene data to a gene detection program, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data to obtain the to-be-detected Detection results of genetic data and detection results of the gold standard genetic data;

S102. Compare the detection result of the gold standard genetic data with a preset standard detection result.

S103. If the comparison result is determined to be valid, determine that the detection result of the gene detection program on the genetic data to be detected is correct;

S104. If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect.

In step S101, the gene detection system sends the gene data to be detected and the gold standard gene data to the gene detection program at the same time. After receiving the gene data to be detected and the gold standard gene data, the gene detection program will follow normal genes. The detection process detects the gene data to be detected and the gold standard gene data, and obtains a detection result of the gene to be detected and a detection result of the gold standard gene data. Specifically, in the embodiment of the present invention, the gene detection program has the ability to simultaneously process two or more sets of data according to a normal detection process. In the embodiment of the present invention, because the genetic test is performed on both the gene data to be detected and the gold standard gene data as a detection standard, when determining whether the detection result of the gene data to be detected is correct, only the gold standard gene needs to be judged. Whether the test result of the data is consistent with the standard test result of the test verification in advance can determine whether the test result of the gene data to be tested is correct. Through this embodiment, the accuracy of the test result can be quickly known. If the test result is incorrect, it can be determined according to the test results of the gold standard genetic data at which step an error occurred, or which test item has a parameter change, etc. ,Convenient.

More specifically, in step S101, the genetic data to be detected and the gold standard gene data are detected in a multi-task and concurrent manner after entering the gene detection program, and do not interfere with each other. Both use the common gene detection in the gene detection process. Program and configuration parameters.

In the embodiment of the present invention, the gene detection program can perform gene detection on the data packet. In step S101, the gene data to be detected and the gold standard gene data are packaged to obtain a data packet to be detected, and the data packet to be detected is sent to Gene detection program. After receiving the data packet to be tested, the gene detection program will decompress the data packet to be tested to obtain the data to be tested and the gold standard gene data. More specifically, in order to ensure the integrity of the data and Confidentiality. After the gene data to be tested and the gold standard gene data are packaged, the packaged initial data package is encrypted to obtain the data package to be tested. The specific encryption method can be set in advance. The key is stored in the genetic testing program in advance. After receiving the encrypted to-be-tested data packet, the genetic testing program will decrypt the to-be-tested data packet according to the decryption key to obtain the initial data packet, and then continue to the initial data packet. The data package is decompressed to obtain the genetic data to be detected and the gold standard genetic data for genetic testing. More specifically, before the genetic detection system encrypts the initial data packet, a verification code is added, and the verification code and the initial data packet are encrypted to obtain a data packet to be detected. In this embodiment, the verification code is valid for a single time, that is, the data packet to be detected is decrypted to obtain the initial data packet and the verification code. If the verification code is read, the verification code is immediately invalidated. The genetic testing program decrypts the data packet to be tested, and verifies the decoded verification code. If the verification code is invalid or wrong, the genetic testing program immediately stops the genetic test, and at the same time, it sends a prompt message to remind the current gene to be tested. data error. It should be noted that in the embodiment of the present invention, the data to be tested and the gold standard gene data are packaged and encrypted, which can implement the entire process of genetic testing, that is, the package is encrypted only once from beginning to end, and the gene detection program is also performed only once. Decryption and verification code judgment can also be packed and encrypted during each project. In this embodiment, the package encryption is performed, which can well prevent the non-program change or the detection error of the genetic data to be detected due to the attack or tampering.

In this embodiment, step S102 adopts a list comparison method, that is, using the gold standard gene data to perform genetic testing under standard conditions and standard conditions in advance, and saving the obtained data in the form of a list, and performing specific gene testing In the process, the detection result of the gold standard genetic data can be compared with the result in the list. If the comparison result is valid, it is determined that the test results have not occurred in the test conditions or the test equipment has not changed. Fully in accordance with the preset standard conditions, standard conditions, etc. More specifically, in the embodiment of the present invention, one or more gold standard gene data may be set, a single gold standard gene data may run through the entire detection process, or different gold standard gene data may be used for different projects. At the same time, the test results of the gold standard genetic data include one or more. If the gene test only performs a certain aspect of the test, the test result of the gold standard genetic data is only one. If the gene test includes several items, the gold test The test results of standard genetic data include several results, which represent the results of each project and each process. By comparing each result, you can clearly understand which link or item has changed during the genetic testing process. Specifically, a method for judging whether the comparison result is valid may set a range of similarity in advance. In specific applications, it is determined whether the similarity between the detection result of the gold standard genetic data and the standard detection result is within a preset similarity range. In this case, if the current similarity is within the preset similarity range, it is determined that the comparison result is valid; if not, the comparison result is determined to be invalid. More specifically, because in the actual detection process, the detection results of the gold standard genetic data may not be completely consistent. When the similarity between the detection results of the gold standard genetic data and the standard detection results reaches a preset percentage, the gold standard is considered this time. The test results of the genetic data are correct.

In the following, the embodiments of the present invention are further explained through specific use cases:

If genetic testing is needed for the gene data A to be tested, the gene data A to be tested and the gold standard gene data B are sent to the gene testing program. The gene testing program completes the testing of the gene data A and gold standard B according to the detection process. To obtain the test result a of the gene data A to be tested and the test result b of the gold standard gene data B, and compare the test result b with the standard test result b 'of the gold standard gene data B to determine all the values of the test result b And the expressions are consistent with the standard test result b ′, it is determined that the test result a of the gene data A to be tested is correct, and the test result a can be used for subsequent processes.

Furthermore, considering that in practice, the gene detection program can only detect a single data, the embodiment of the present invention also provides another way to detect.

In step S101, insert the gold standard gene data into the genetic data to be detected to obtain a single pre-processed gene, and send the pre-processed gene to the gene detection program, so that the gene detection program performs gene detection on the pre-processed gene. To obtain a test result, which includes the test result of the gene data to be detected and the test result of the gold standard gene data.

Specifically, the gold standard gene data is inserted into the gene data to be tested, and the head or tail of the gene data to be tested is generally selected to be inserted, so as not to affect the composition of the gene data to be tested and subsequent detection results. After the gene detection program performs gene detection on the to-be-detected gene data inserted with gold standard gene data, a single test result of the to-be-detected gene data + gold standard gene data will be obtained. The gene detection system will extract the test results corresponding to the gold standard gene data in the test result, and compare the test results of the gold standard gene data with the standard test results that have been tested and verified in advance, if they are consistent. It means that the test result of the genetic data to be tested is correct.

The following further describes the embodiments of the present invention through a specific use case:

The gene data A to be detected needs to be genetically tested. The gold standard gene data B is inserted into the tail of the gene data A to be detected to obtain a preprocessed gene C. The data format of the preprocessed gene is A + B. Send to the gene detection program, which detects the pre-processed gene C to obtain the test result c, extract the test result b corresponding to the gold standard gene data B in the test result, and compare the test result b with the gold standard gene The standard test result b 'of data B is compared, and it is determined that all the values and expressions of the test result b are consistent with the standard test result b'. Then it is determined that the test result a of the genetic data A to be tested is correct, and the test result can be used. a Carry out subsequent processes.

FIG. 2 shows a gene detection system provided by an embodiment of the present invention, including:

The detecting unit 201 is configured to simultaneously send the gene data to be detected and the gold standard gene data to a gene detection program, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data respectively, and A detection result of the gene data to be detected and a detection result of the gold standard gene data;

A comparison unit 202 is configured to compare the detection result of the gold standard gene data with a preset standard detection result, and if the comparison result is determined to be valid, determine that the gene detection program has performed on the genetic data to be detected. The detection result is correct. If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect.

Further, the detecting unit 201 is specifically configured to:

Package the genetic data to be detected with the gold standard genetic data to obtain a data package to be detected;

And sending the data packet to be detected to the gene detection program.

Further, the detecting unit 201 is further configured to:

Package the gene data to be detected and the gold standard gene data to obtain an initial data package;

Encrypt the initial data packet, and send the data packet to be detected to the gene detection program, so that the gene detection program decrypts the data packet to be detected according to a decryption key to obtain the initial data packet, and Decompress the initial data packet to obtain the gene data to be detected and the gold standard gene data, and perform gene detection according to the gene data to be detected and the gold standard gene data.

Further, the comparison unit 202 is further configured to:

Determine whether the similarity between the detection result of the gold standard gene data and the standard detection result is within a preset range, and if the similarity is within the preset range, determine that the comparison result is valid; if the If the similarity is not within the preset range, it is determined that the comparison result is invalid.

In the several embodiments provided in this application, it should be understood that the disclosed methods and devices may be implemented in other ways. For example, the device embodiments described above are only schematic. For example, the division of the modules is only a logical function division. In actual implementation, there may be another division manner. For example, multiple modules or components may be combined or It can be integrated into another device, or some features can be ignored or not implemented. In addition, the displayed or discussed mutual coupling or direct coupling or communication connection may be through some interfaces, the indirect coupling or communication connection of the device or module, and may be electrical, mechanical or other forms.

The modules described as separate components may or may not be physically separated, and the components displayed as modules may or may not be physical modules, may be located in one place, or may be distributed on multiple network modules. Some or all of the modules may be selected according to actual needs to achieve the objective of the solution of this embodiment.

In addition, each functional module in each embodiment of the present invention may be integrated into one processing module, or each module may exist separately physically, or two or more modules may be integrated into one module. The above integrated modules may be implemented in the form of hardware or software functional modules.

When the integrated module is implemented in the form of a software functional module and sold or used as an independent product, it can be stored in a computer-readable storage medium. Based on this understanding, the technical solution of the present invention essentially or part that contributes to the existing technology or all or part of the technical solution can be embodied in the form of a software product, which is stored in a storage medium , Including a number of instructions for causing a computer device (which may be a personal computer, a server, or a network device, etc.) to perform all or part of the steps of the method described in each embodiment of the present invention. The aforementioned storage medium includes: a U disk, a mobile hard disk, and a read-only memory (ROM, Read-Only Memory), random access memory (RAM, Random Access Memory), magnetic disks or optical discs, and other media that can store program code.

It should be noted that, for the foregoing method embodiments, for simplicity of description, they are all described as a series of action combinations, but those skilled in the art should know that the present invention is not limited by the described action sequence. Because according to the present invention, certain steps may be performed in another order or simultaneously. Secondly, those skilled in the art should also know that the embodiments described in the specification are all preferred embodiments, and the actions and modules involved are not necessarily required by the present invention.

In the above embodiments, the description of each embodiment has its own emphasis. For a part that is not described in detail in an embodiment, reference may be made to related descriptions in other embodiments.

The above is a description of a gene detection method and system provided by the present invention. For those skilled in the art, according to the ideas of the embodiments of the present invention, there will be changes in the specific implementation and application scope. In summary, The contents of this description should not be construed as limiting the invention.

Claims (10)

A method for genetic testing, comprising: The gene data to be detected and the gold standard gene data are sent to a gene detection program at the same time, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data to obtain the gene to be detected The test results and the test results of the gold standard genetic data; Comparing the detection result of the gold standard gene data with a preset standard detection result; If the comparison result is determined to be valid, it is determined that the detection result of the gene detection program on the genetic data to be detected is correct; If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect. The method of claim 1, wherein sending the gene data to be detected and the gold standard gene data to the gene detection program at the same time comprises: Package the genetic data to be detected with the gold standard genetic data to obtain a data package to be detected; And sending the data packet to be detected to the gene detection program. The method of claim 2, wherein the step of packaging the gene data to be detected with the gold standard gene data to obtain a data packet to be detected comprises: Package the gene data to be detected and the gold standard gene data to obtain an initial data package; Encrypting the initial data packet to obtain the data packet to be detected; Then, the gene detection program performing the gene detection on the gene data to be detected and the gold standard gene data includes: The gene detection program decrypts the data packet to be detected according to a decryption key to obtain the initial data packet; Decompress the initial data packet to obtain the gene data to be detected and the gold standard gene data, and perform gene detection according to the gene data to be detected and the gold standard gene data. The method of claim 1, wherein comparing the detection result of the gold standard gene data with a preset standard detection result comprises: Find the standard test result corresponding to the gold standard gene data in the standard test result list; A comparison result is obtained by comparing the detection result of the gold standard gene data with the standard detection result obtained by the search. The method of claim 1, wherein the step of determining whether the comparison result is valid comprises: Determining whether the similarity between the detection result of the gold standard gene data and the standard detection result is within a preset range; If the similarity is within the preset range, determining that the comparison result is valid; If the similarity is not within the preset range, it is determined that the comparison result is invalid. The gene detection method according to any one of claims 1 to 5, wherein the gold standard gene data includes at least one genetic test result data that is previously subjected to genetic test verification. A genetic testing system, comprising: A detection unit, configured to simultaneously send the gene data to be detected and the gold standard gene data to a gene detection program, so that the gene detection program performs gene detection on the gene to be detected and the gold standard gene data, respectively, to obtain the Describe the detection results of the genetic data to be detected and the detection results of the gold standard genetic data; A comparison unit, configured to compare the detection result of the gold standard genetic data with a preset standard detection result, and if the comparison result is determined to be valid, determine that the gene detection program detects the genetic data to be detected The result is correct. If the comparison result is determined to be invalid, it is determined that the detection result of the genetic data to be detected is incorrect. The gene detection system according to claim 7, wherein the detection unit is specifically configured to: Package the genetic data to be detected with the gold standard genetic data to obtain a data package to be detected; And sending the data packet to be detected to the gene detection program. The gene detection method according to claim 8, wherein the detection unit is further configured to: Package the gene data to be detected and the gold standard gene data to obtain an initial data package; Encrypt the initial data packet, and send the data packet to be detected to the gene detection program, so that the gene detection program decrypts the data packet to be detected according to a decryption key to obtain the initial data packet, and Decompress the initial data packet to obtain the gene data to be detected and the gold standard gene data, and perform gene detection according to the gene data to be detected and the gold standard gene data. The gene detection system according to claim 7, wherein the comparison unit is further configured to: Determine whether the similarity between the detection result of the gold standard gene data and the standard detection result is within a preset range, and if the similarity is within the preset range, determine that the comparison result is valid; if the If the similarity is not within the preset range, it is determined that the comparison result is invalid.