A method, device, computer equipment and medium for detecting pathogenic genes

Abstract

The present application provides a method, device, computer equipment and medium for detecting pathogenic genes. Among them, the method includes: screening the genes in the extracted cells based on the pathogenic gene database, and determining the pathogenic gene set; determining the pathogenic gene carrying value according to the pathogenic gene set; comparing and analyzing the pathogenic gene carrying value according to the historical gene detection data, and outputting the detection result. Among them, the pathogenic gene database includes a variety of pathogenic genes. The pathogenic gene set is a set of genes in the extracted cells that are the same as the pathogenic genes in the pathogenic gene database. The pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the extracted cells. Through the above method, the pathogenic genes that the target object may carry can be detected more comprehensively, and the risk of disease of the target object can be predicted so as to prepare in advance.

Description

Technical Field

[0001] The present application relates to the field of gene detection, and in particular to a method, device, computer equipment and medium for detecting pathogenic genes. Background Art

[0002] Modern medical research has proven that human diseases are directly or indirectly related to genes. Generally speaking, there are three root causes of disease: one is acquired gene mutation; the second is the interaction between normal genes and the environment; and the third is inherited gene defects.

[0003] Currently, genetic testing can be used to diagnose diseases or predict disease risks. If the risk of disease can be predicted in time, preparations can be made in advance. For example, for couples who are preparing for pregnancy, if their genes can be tested in time, it can be determined whether their next generation may be sick and the probability of getting sick. For another example, for pregnant women, doctors can use genetic technology to determine whether the embryo carries the disease gene.

[0004] However, current genetic testing only tests some genes. For example, doctors determine the disease genes with a higher probability of inheritance based on the parents' family history of genetic diseases, and perform genetic testing on embryos to determine whether the disease genes with a higher probability of inheritance exist in the embryos. In other words, current genetic testing generally only tests very few disease genes. This method is not comprehensive in predicting diseases.

[0005] Once a newborn carries an undetected disease gene and unfortunately becomes ill, both the newborn and the family welcoming the newborn will face tremendous pressure and pain. For the newborn, it needs to endure the pain and cannot live like other healthy children.

[0006] For parents, not only do they have to bear tremendous mental pressure, but they also have to bear the cost of treatment.

[0007] Therefore, how to comprehensively predict the pathogenic genes that newborns may carry is an urgent problem to be solved. Summary of the invention

[0008] The present application provides a pathogenic gene detection method, device, computer equipment and medium. Among them, the pathogenic gene detection device can be used to perform the pathogenic gene detection method. The pathogenic gene detection device can compare the genes in the extracted cells with the genes in the pathogenic gene database to determine the pathogenic gene set. The pathogenic gene detection device can also determine the pathogenic gene carrying value based on the pathogenic gene set, and analyze the pathogenic gene carrying value according to the historical gene detection data to obtain the test results. Through the above method, the pathogenic genes that the target object may carry can be detected more comprehensively, and the risk of disease of the target object can be predicted so as to prepare in advance.

[0009] In the first aspect, the present application provides a method for detecting pathogenic genes. The method may include: screening genes in extracted cells based on a pathogenic gene database and determining a pathogenic gene set; the pathogenic gene database includes multiple pathogenic genes; the pathogenic gene set is a set of genes in the cell that are identical to the pathogenic genes in the pathogenic gene database; determining a pathogenic gene carrying value based on the pathogenic gene set; the pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the cell; comparing and analyzing the pathogenic gene carrying value based on historical gene detection data, and outputting the detection result.

[0010] In the scheme provided in the present application, the pathogenic gene detection device can compare the genes in the extracted cells with the pathogenic genes in the pathogenic gene database, and the pathogenic gene database can contain multiple pathogenic genes. This screening method can detect the pathogenic genes in the extracted cells as much as possible. The pathogenic gene detection device can also determine the pathogenic gene carrying value based on the pathogenic gene set, and analyze it in combination with the historical gene detection data to obtain the test results. It is understandable that the test results can characterize the expected risk of illness of the target object. In this way, doctors can give reasonable suggestions based on the expected risk of illness, and the parents of the target object can also prepare in advance to deal with the disease.

[0011] In combination with the first aspect, in a possible implementation of the first aspect, when the first ratio is less than the first threshold, the key pathogenic gene is the pathogenic gene included in the pathogenic gene carrier set after excluding the first pathogenic gene; wherein the first ratio is the ratio of the number of newborns carrying the first pathogenic gene and suffering from the first disease in the past n years to the number of newborns carrying the first pathogenic gene; the first disease is a disease caused by the first pathogenic gene; and n is a positive number.

[0012] In combination with the first aspect, in a possible implementation of the first aspect, when the genetic susceptibility degree of the second pathogenic gene is less than a second threshold, the key pathogenic gene is the pathogenic gene included in the pathogenic gene carrier set after removing the second pathogenic gene; wherein the genetic susceptibility degree is used to characterize the relationship between pathogenic genes and environmental factors in the process of participating in the occurrence of the disease; the greater the genetic susceptibility degree, the greater the role of the pathogenic gene in the occurrence of the disease.

[0013] In combination with the first aspect, in a possible implementation of the first aspect, determining the pathogenic gene carrying value based on the pathogenic gene set specifically includes: determining the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene; determining the pathogenic gene carrying value based on the weight; wherein the genetic susceptibility degree is used to characterize the relationship between pathogenic genes and environmental factors in the process of participating in the occurrence of the disease; the greater the genetic susceptibility degree, the greater the role of the pathogenic gene in the occurrence of the disease.

[0014] In combination with the first aspect, in a possible implementation of the first aspect, determining the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene specifically includes: if the key pathogenic gene includes a pathogenic gene that causes a polygenic genetic disease, determining the weight corresponding to the key pathogenic gene based on the degree of influence of the pathogenic gene on the polygenic genetic disease and the genetic susceptibility degree of the pathogenic gene; the greater the degree of influence of the pathogenic gene on the polygenic genetic disease and the higher the genetic susceptibility degree of the pathogenic gene, the greater the weight corresponding to the key pathogenic gene.

[0015] In combination with the first aspect, in a possible implementation of the first aspect, the historical gene detection data includes the pathogenic gene carrying values ​​of newborns in the past n years; n is a positive number; the pathogenic gene carrying values ​​are analyzed according to the historical gene detection data, and the detection results are output, specifically including: determining a first average value; the first average value is the average value of the pathogenic gene carrying values ​​of sick newborns in the past n years; determining a second average value; the second average value is the average value of the pathogenic gene carrying values ​​of non-sick newborns in the past n years; comparing and analyzing the first average value and the second average value, and outputting the detection results.

[0016] In combination with the first aspect, in a possible implementation of the first aspect, the cell is a cell of a target object or a cell of a parent of the target object; the outputting of the test result based on the first average value and the second average value specifically includes: when the first average value is not less than the second average value, if the pathogenic gene carrying value is greater than the first average value, the test result is that the probability of the target object suffering from the disease is a first prevalence rate; if the pathogenic gene carrying value is not greater than the first average value and not less than the second average value, the test result is that the probability of the target object suffering from the disease is a second prevalence rate; if the pathogenic gene carrying value is less than the second average value, the test result is that the probability of the target object suffering from the disease is a third prevalence rate; when the first average value is less than the second average value, a third average value is determined; the third average value is the average of the first average value and the second average value; if the pathogenic gene carrying value is not less than the third average value, the test result is that the probability of the target object suffering from the disease is a fourth prevalence rate; if the pathogenic gene carrying value is less than the third average value, the test result is that the probability of the target object suffering from the disease is a fifth prevalence rate; wherein, the first prevalence rate is greater than the second prevalence rate; the second prevalence rate is greater than the third prevalence rate; and the fourth prevalence rate is greater than the fifth prevalence rate.

[0017] In the second aspect, the present application provides a pathogenic gene detection device. The device may include: a screening unit, which is used to screen the genes in the extracted cells based on the pathogenic gene database and determine the pathogenic gene set; a pathogenic gene carrying value calculation unit, which is used to determine the pathogenic gene carrying value according to the pathogenic gene set; an analysis unit, which compares and analyzes the pathogenic gene carrying value according to historical gene detection data; an output unit, which is used to output the detection result; wherein the pathogenic gene database includes multiple pathogenic genes; the pathogenic gene set is a set of genes in the cells that are the same as the pathogenic genes in the pathogenic gene database; the pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the cells.

[0018] In combination with the second aspect, in a possible implementation of the second aspect, when the first ratio is less than the first threshold, the key pathogenic gene is the pathogenic gene included in the pathogenic gene carrier set after excluding the first pathogenic gene; wherein the first ratio is the ratio of the number of newborns carrying the first pathogenic gene and suffering from the first disease in the past n years to the number of newborns carrying the first pathogenic gene; the first disease is a disease caused by the first pathogenic gene.

[0019] In combination with the second aspect, in a possible implementation of the second aspect, when the genetic susceptibility degree of the second pathogenic gene is less than a second threshold, the key pathogenic gene is the pathogenic gene included in the pathogenic gene carrier set after removing the second pathogenic gene; wherein the genetic susceptibility degree is used to characterize the relationship between pathogenic genes and environmental factors in the process of participating in the occurrence of the disease; the greater the genetic susceptibility degree, the greater the role of the pathogenic gene in the occurrence of the disease.

[0020] In combination with the second aspect, in a possible implementation of the second aspect, the pathogenic gene carrying value calculation unit, when used to determine the pathogenic gene carrying value based on the pathogenic gene set, is specifically used to: determine the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene; determine the pathogenic gene carrying value based on the weight; wherein the genetic susceptibility degree is used to characterize the relationship between pathogenic genes and environmental factors in the process of participating in the occurrence of the disease; the greater the genetic susceptibility degree, the greater the role of the pathogenic gene in the occurrence of the disease.

[0021] In combination with the second aspect, in a possible implementation of the second aspect, the pathogenic gene carrying value calculation unit, when used to determine the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene, is specifically used to: if the key pathogenic gene includes a pathogenic gene that causes a polygenic genetic disease, based on the degree of influence of the pathogenic gene on the polygenic genetic disease and the genetic susceptibility degree of the pathogenic gene, determine the weight corresponding to the key pathogenic gene; the greater the degree of influence of the pathogenic gene on the polygenic genetic disease and the higher the genetic susceptibility degree of the pathogenic gene, the greater the weight corresponding to the key pathogenic gene.

[0022] In combination with the second aspect, in a possible implementation of the second aspect, the historical gene detection data include the pathogenic gene carrying values ​​of newborns in the past n years; n is a positive number; the pathogenic gene carrying value calculation unit, when used to analyze the pathogenic gene carrying value according to the historical gene detection data and output the detection result, is specifically used to: determine a first average value; the first average value is the average value of the pathogenic gene carrying values ​​of sick newborns in the past n years; determine a second average value; the second average value is the average value of the pathogenic gene carrying values ​​of non-sick newborns in the past n years; compare and analyze the first average value and the second average value, and output the detection result.

[0023] In combination with the second aspect, in a possible implementation of the second aspect, the cell is a cell of the target object or a cell of the target object's parents; the pathogenic gene carrying value calculation unit, when used to output the test result based on the first average value and the second average value, is specifically used to: when the first average value is not less than the second average value, if the pathogenic gene carrying value is greater than the first average value, the test result is that the disease probability of the target object is the first disease rate; if the pathogenic gene carrying value is not greater than the first average value and not less than the second average value, the test result is that the disease probability of the target object is the second disease rate; if the pathogenic gene carrying value is less than the first average value, the test result is that the disease probability of the target object is the second disease rate; The test result is that the target object's probability of suffering from the disease is the third morbidity rate when the first average value is less than the second average value; the third average value is determined when the first average value is less than the second average value; the third average value is the average of the first average value and the second average value; if the pathogenic gene carrying value is not less than the third average value, the test result is that the target object's probability of suffering from the disease is the fourth morbidity rate; if the pathogenic gene carrying value is less than the third average value, the test result is that the target object's probability of suffering from the disease is the fifth morbidity rate; wherein, the first morbidity rate is greater than the second morbidity rate; the second morbidity rate is greater than the third morbidity rate; the fourth morbidity rate is greater than the fifth morbidity rate.

[0024] In a third aspect, the present application provides a computer device, characterized in that it includes: a processor and a memory, the memory storing a computer program, and the processor executes the computer program in the memory to implement the method described in the first aspect and any one of the possible implementation methods of the first aspect.

[0025] In a fourth aspect, the present application provides a computer-readable storage medium, which stores a computer program, characterized in that when the above-mentioned computer program runs on a computer, the above-mentioned computer executes the method described in the first aspect and any one of the possible implementation methods of the first aspect.

[0026] It can be understood that the pathogenic gene detection device provided in the second aspect, the computer device provided in the third aspect, and the computer-readable storage medium provided in the fourth aspect are all used to execute the pathogenic gene detection method provided in the first aspect. Therefore, the beneficial effects that can be achieved can refer to the beneficial effects provided in the first aspect, and will not be repeated here. BRIEF DESCRIPTION OF THE DRAWINGS

[0027] In order to more clearly illustrate the embodiments of the present application or the technical solutions in the prior art, the drawings required for use in the embodiments or the description of the prior art are briefly introduced below.

[0028] Figure 1 A schematic diagram of a pathogenic gene detection system provided in an embodiment of the present application;

[0029] Figure 2 A flow chart of a method for detecting pathogenic genes provided in an embodiment of the present application;

[0030] Figure 3 A schematic diagram of a pathogenic gene detection device provided in an embodiment of the present application;

[0031] Figure 4 A schematic diagram of the structure of an electronic device provided in an embodiment of the present application. DETAILED DESCRIPTION

[0032] The terms used in the following embodiments of the present application are only for the purpose of describing specific embodiments, and are not intended to be used as limitations to the present application. As used in the specification and appended claims of the present application, the singular expressions "one", "a kind of", "said", "above", "the" and "this" are intended to also include plural expressions, unless there is a clear indication to the contrary in the context. It should also be understood that the term "and / or" used in the present application refers to and includes any or all possible combinations of one or more listed items.

[0033] The collection and processing of genetic data in this application should be strictly in accordance with the requirements of relevant national laws and regulations when applied in examples, and the permission or separate consent of the genetic data subject should be obtained. Subsequent data use and processing should be carried out within the scope of authorization of laws and regulations and personal information subjects, and the collection, use and processing of relevant data must comply with the relevant laws, regulations and standards of the relevant regions.

[0034] In order to facilitate understanding of the embodiments of the present application, a pathogenic gene detection system architecture based on the embodiments of the present application is first described.

[0035] like Figure 1 As shown, Figure 1 It is a pathogenic gene detection system based on the embodiments of the present application. Figure 1 The system shown includes a cell extraction device, a pathogenic gene database and a pathogenic gene detection device. Among them, the cell extraction device is used to extract cells. It can be understood that the cells mentioned here are cells of the target object or cells of the target object's parents. The target object refers to the object for pathogenic gene detection. The pathogenic gene database can include multiple pathogenic genes.

[0036] The cell extraction device in the pathogenic gene detection system can extract the cells of the target object or the cells of the target object's parents. Then, the pathogenic gene detection device is used to screen the genes in the extracted cells. It is understandable that in this process, the pathogenic gene detection device can compare the genes in the extracted cells with the pathogenic genes in the pathogenic gene database to determine the pathogenic gene set. It is understandable that the pathogenic gene set is a set of genes in the cell that are identical to the pathogenic genes in the pathogenic gene database. The pathogenic gene detection device can determine the pathogenic gene carrying value of the extracted cells based on the pathogenic gene set. That is, the pathogenic gene carrying value of the target object. The pathogenic gene detection device can also analyze the pathogenic gene carrying value based on the historical gene detection data and output the test results.

[0037] It should be noted that the target object mentioned in the present application may be an unborn baby. In other words, the cells extracted by the cell extraction device may be embryonic cells or cells of parents in the pregnancy preparation period.

[0038] In order to detect the pathogenic gene of the target object as comprehensively as possible, the present application provides a pathogenic gene detection method, which determines the pathogenic gene carrying value of the target object through a pathogenic gene detection device. That is, the pathogenic gene carrying value of the target object. The pathogenic gene detection device can also analyze the pathogenic gene carrying value based on historical gene detection data and output the detection result.

[0039] The following is a detailed description of a pathogenic gene detection method provided by the present application. Figure 2 As shown, the pathogenic gene detection method may include the following steps:

[0040] S201: The pathogenic gene detection device screens the genes in the extracted cells based on the pathogenic gene database and determines the pathogenic gene set. The pathogenic gene database may include multiple pathogenic genes. The pathogenic gene set is a set of genes in the extracted cells that are identical to the pathogenic genes in the pathogenic gene database.

[0041] Specifically, the pathogenic gene detection device can screen the genes in the extracted cells to determine whether the genes in the extracted cells contain genes identical to the pathogenic genes in the pathogenic gene database. These genes identical to the pathogenic genes in the pathogenic gene database constitute the pathogenic gene set. In other words, the pathogenic gene set contains genes identical to the pathogenic genes in the extracted cells in the pathogenic gene database. It is understandable that the cells extracted by the pathogenic gene detection device can be cells of the target object, or cells of the parents of the target object. In addition, according to the above, the target object mentioned in the present application can be an unborn baby. In other words, the cells extracted by the cell extraction device can be embryonic cells, or cells of parents in the pregnancy preparation period.

[0042] In some embodiments of the present application, the pathogenic gene detection device may use a Bloom filter to implement the screening of genes in the extracted cells.

[0043] The following is a brief introduction to the principle of Bloom filter.

[0044] Bloom Filter is actually a very long binary vector and a series of random mapping functions. Bloom Filter can be used to retrieve whether an element is in a set. Its advantages are that the space efficiency and query time are much better than general algorithms, but its disadvantages are that there is a certain misjudgment rate and difficulty in deletion.

[0045] In the initial state, all values ​​in the Bloom filter are set to 0.

[0046] In order to add data items to the Bloom filter, the pathogenic gene detection device can set K different hash functions and set the value of the corresponding bit at the result position to "1". Generally speaking, the Bloom filter uses multiple hash functions, which will generate multiple index values.

[0047] When searching for a value, if any index value after the value is calculated by K hash functions is 0, then the value is definitely not in the set. But if all index values ​​are 1, then it can only be said that the searched value may exist in the set.

[0048] It is important to note that Bloom filters may give false positives, which are caused by hash collisions that result in different elements being stored in the same bit positions. Fortunately, however, the false positive rate of Bloom filters is predictable. The false positive rate of Bloom filters can be calculated using the following formula: Where n is the number of Bloom filters that have been added. k is the number of hashes, i.e. the number of hash functions. m is the length of the Bloom filter (e.g. the size of the bit array).

[0049] In conjunction with the present application scheme, the process of adding data to the Bloom filter is the process of the pathogenic gene detection device adding the genes in the extracted cells to the Bloom filter. After the gene addition is completed, the pathogenic gene detection device can search for the pathogenic gene in the pathogenic gene database through the Bloom filter. If any index value of a pathogenic gene in the pathogenic gene database after k hash function operations is 0, it means that the extracted cell does not contain this pathogenic gene. If all index values ​​of a pathogenic gene in the pathogenic gene database after k hash function operations are 1, it means that the extracted cell may contain this pathogenic gene.

[0050] According to the above, if the pathogenic gene detection device uses a Bloom filter to screen the pathogenic gene in the embryo's genes, it may cause misjudgment. In this case, the pathogenic gene detection device can determine the misjudgment rate and determine whether to discard the screening result based on the preset threshold. For example, after the pathogenic gene detection device calculates the misjudgment rate of the Bloom filter and finds that the misjudgment rate is greater than the preset threshold, the screening result is discarded, that is, it is determined that the extracted cells do not contain the pathogenic gene obtained by the screening.

[0051] It is understandable that the preset threshold can be set according to actual needs, and this application does not impose any restrictions on this.

[0052] In some embodiments of the present application, the pathogenic gene detection device can call the pathogenic gene database in the pathogenic gene detection system.

[0053] In some embodiments of the present application, the pathogenic gene detection device can establish a pathogenic gene database. For example, the pathogenic gene detection device can write multiple pathogenic genes into the pathogenic gene database by itself. For another example, the pathogenic gene detection device can obtain a pathogenic gene database from other devices and store the pathogenic gene database in the device.

[0054] In some embodiments of the present application, the pathogenic gene detection device can also add a label to the pathogenic gene contained in the pathogenic gene database. The label may include relevant information of the pathogenic gene. For example, the label may include the relationship between the pathogenic gene and the chromosome. For another example, the label may include relevant information of the disease caused by the pathogenic gene. It is understandable that the relevant information can be expressed in the form of text (including but not limited to numbers, special characters, etc.), images, etc., and the present application is not limited to this. Of course, there may be other devices in the present application to add labels to the pathogenic genes in the pathogenic gene database, and the present application is not limited to this.

[0055] Exemplarily, there are oncogenes and tumor suppressor genes in cells. Once one side becomes diseased and loses balance, cancer may occur. The p53 gene is a gene in the body that inhibits cells from turning into cancer cells. The p53 gene is located on chromosome 17. The mutated p53 gene is also a pathogenic gene. The pathogenic gene detection device can add a label to the mutated p53 gene. The label may include relevant information about the mutated p53 gene. The relevant information may include chromosome 17. In this way, if necessary, when searching the pathogenic gene database, it can be easily found that the mutated p53 gene is located on chromosome 17.

[0056] Exemplary, human The -globin gene is located on the short arm of chromosome 16 near the telomere and is polymorphic. - Globin gene deletion or functional defect may lead to - Impairment of globin chain synthesis, resulting in hemolytic anemia, a disease called - Thalassemia. That is, abnormal -Globin gene is a disease-causing gene. The disease-causing gene detection device can be used to detect - Globin gene tag. The tag can include chromosome 16. In this way, when searching the pathogenic gene database, the mutated gene can be quickly found. The -globin gene is located on chromosome 16.

[0057] It is understandable that some disease-causing genes can interact with other disease-causing genes to cause disease. For example, polygenic diseases are caused by the cooperation of several genes with different numbers and different functions.

[0058] In some embodiments of the present application, the label added by the pathogenic gene detection device to the pathogenic gene may also include the relationship between the pathogenic gene and other pathogenic genes. Exemplarily, gene e, gene f and gene g are all pathogenic genes, and these three genes can work together to cause the carrier to suffer from disease H. The label of gene e may include the information that gene e, gene f and gene g work together to cause disease H. In addition, the label of gene e may also include the degree of influence of gene e on disease H. For example, the degree of influence of gene e on disease H is 80%. Of course, the degree of influence mentioned here can be reflected not only by specific numerical values, but also by text and other forms, and this application is not limited to this.

[0059] S202: The pathogenic gene detection device determines the pathogenic gene carrying value according to the pathogenic gene set, wherein the pathogenic gene carrying value is used to indicate the proportion of the key pathogenic gene in the genes of the extracted cells.

[0060] Specifically, the pathogenic gene detection device can determine the pathogenic gene carrying value of the extracted cells according to the pathogenic gene set. It can be understood that the pathogenic gene carrying value can represent the proportion of key pathogenic genes in the genes of the extracted cells. It should be noted that the pathogenic gene carrying value is closely related to the probability of illness of the target object.

[0061] In some embodiments of the present application, the key pathogenic gene may be a pathogenic gene in a pathogenic gene set.

[0062] In some embodiments of the present application, the first ratio is less than the first threshold value. In this case, the key pathogenic gene is the pathogenic gene contained in the pathogenic gene carrying set after removing the first pathogenic gene. Among them, the first ratio is the ratio of the number of newborns carrying the first pathogenic gene and suffering from the first disease in the past n years to the number of newborns carrying the first pathogenic gene. The first disease is a disease caused by the first pathogenic gene. Of course, the present application does not limit the first pathogenic gene and the first disease. For example, the first disease can be type 1 diabetes, and the first pathogenic gene can be the HLA-DQ gene.

[0063] It is understandable that the first threshold can be set according to actual needs, and this application does not impose any restrictions on this.

[0064] Exemplarily, the number of newborns carrying the first pathogenic gene and suffering from the first disease in the past n years is 10,000. The number of newborns carrying the first pathogenic gene in the past n years is 1,000,000. The pathogenic gene detection device can determine that the first ratio is 0.01. In some embodiments of the present application, the first threshold value can be 0.015. In this case, the first ratio is less than the first threshold value. The key pathogenic gene can be the pathogenic gene contained in the pathogenic gene carrier set after removing the first pathogenic gene.

[0065] It should be noted that the number of newborns carrying the first pathogenic gene and suffering from the first disease in the past n years mentioned in this application is based on the data obtained by genetic testing of newborns in the past n years. It should be noted that the genetic testing of newborns mentioned here can be understood as genetic testing of cells including newborns, embryonic cells, and cells of parents in the period of preparation for pregnancy.

[0066] In some embodiments of the present application, the genetic susceptibility of the second pathogenic gene is less than the second threshold value. In this case, the key pathogenic gene is the pathogenic gene included in the pathogenic gene carrier set after removing the second pathogenic gene.

[0067] It is understandable that the involvement of pathogenic genes in the disease process is not entirely due to the characteristics of the gene itself, but rather its genotype under the influence of a certain genetic background and environmental factors. The results of the complex interaction between genetic background and environmental factors indicate the degree of genetic susceptibility of the pathogenic gene to a specific disease.

[0068] In other words, the degree of genetic susceptibility can be used to characterize the relationship between pathogenic genes and environmental factors in the process of disease occurrence. It can be understood that the greater the degree of genetic susceptibility, the greater the role of pathogenic genes in the process of disease occurrence, and the smaller the role of environmental factors in the process of disease occurrence. On the other hand, the smaller the degree of genetic susceptibility, the smaller the role of pathogenic genes in the process of disease occurrence, and the greater the role of environmental factors in the process of disease occurrence.

[0069] It should be noted that the labels set for the pathogenic genes mentioned above may also include the specific diseases corresponding to the pathogenic genes and the genetic susceptibility of the pathogenic genes.

[0070] Exemplarily, the disease caused by the second pathogenic gene is the second disease. The second disease may include, but is not limited to, congenital heart disease, early-onset diabetes, late-onset diabetes, coronary heart disease, asthma, schizophrenia, peptic ulcer, essential hypertension, cleft lip or cleft palate, and spina bifida. Wherein, in the case of congenital heart disease as the second disease, the genetic susceptibility of the second pathogenic gene is 35%. In the case of early-onset diabetes as the second disease, the genetic susceptibility of the second pathogenic gene is 75%. In the case of late-onset diabetes as the second disease, the genetic susceptibility of the second pathogenic gene is 35%. In the case of coronary heart disease as the second disease, the genetic susceptibility of the second pathogenic gene is 65%. In the case of asthma as the second disease, the genetic susceptibility of the second pathogenic gene is 80%. In the case of schizophrenia as the second disease, the genetic susceptibility of the second pathogenic gene is 80%. In the case of peptic ulcer as the second disease, the genetic susceptibility of the second pathogenic gene is 37%. In the case of essential hypertension as the second disease, the genetic susceptibility of the second pathogenic gene is 62%. In the case of cleft lip or cleft palate as the second disease, the genetic susceptibility of the second pathogenic gene is 76%. In the case of spina bifida as the second disease, the genetic susceptibility of the second pathogenic gene is 60%.

[0071] It is understandable that the second threshold can be set according to actual needs, and this application does not impose any limitation on this.

[0072] Exemplarily, the genetic susceptibility of the second pathogenic gene is 30%. The second threshold is 80%. In this case, the genetic susceptibility of the second pathogenic gene is less than the second threshold. The key pathogenic gene can be the pathogenic gene contained in the pathogenic gene carrier set after removing the second pathogenic gene.

[0073] In some embodiments of the present application, the pathogenic gene detection device can determine the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene, and determine the pathogenic gene carrying value based on the weight.

[0074] Specifically, the pathogenic gene carrying value determined by the pathogenic gene detection device is recorded as a. The pathogenic gene carrying value a can be determined by: .in, It represents the number of the nth key pathogenic gene. It represents the weight corresponding to the nth key pathogenic gene. X represents the total number of genes extracted from the cells.

[0075] For example, if the genetic susceptibility of a key pathogenic gene is less than 30%, the weight corresponding to the key pathogenic gene is set to . If the genetic susceptibility of the key pathogenic gene is not less than 30% and less than 40%, the weight corresponding to the key pathogenic gene is set to . .

[0076] It should be noted that the above example is only one implementation provided by the present application. The present application does not limit the specific method of determining the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene.

[0077] In some embodiments of the present application, if the key pathogenic gene is a pathogenic gene that causes a polygenic genetic disease, the pathogenic gene detection device can determine the weight corresponding to the key pathogenic gene based on the degree of influence of the pathogenic gene on the polygenic genetic disease and the degree of genetic susceptibility of the pathogenic gene. It is understandable that the greater the degree of influence of the pathogenic gene on the polygenic genetic disease and the higher the degree of genetic susceptibility of the pathogenic gene, the greater the weight corresponding to the key pathogenic gene.

[0078] For example, if the genetic susceptibility of the key pathogenic gene is less than 30%, and the impact on the polygenic genetic disease is 80%, the pathogenic gene detection device can set the weight corresponding to the key pathogenic gene to . If the genetic susceptibility of the key pathogenic gene is less than 30%, and the impact on the polygenic genetic disease is 50%, the pathogenic gene detection device can set the weight corresponding to the key pathogenic gene to . If the genetic susceptibility of the key pathogenic gene is higher than 80% and the degree of influence on the polygenic genetic disease is 60%, the pathogenic gene detection device can set the weight corresponding to the key pathogenic gene to . .

[0079] It is understandable that the pathogenic gene detection device can determine the degree of influence of the pathogenic gene on the polygenic genetic disease according to the label carried by the pathogenic gene. Of course, the pathogenic gene detection device can also determine the degree of influence of the pathogenic gene on the polygenic genetic disease according to other methods. For example, the pathogenic gene detection device can obtain the information from other devices or other databases. It is understandable that this application is not limited to this.

[0080] S203: The pathogenic gene detection device compares and analyzes the pathogenic gene carrying value according to the historical gene detection data and outputs the detection result.

[0081] It is understandable that historical gene testing data may include but is not limited to the pathogenic gene carrying values ​​of newborns in the past n years. The pathogenic gene carrying values ​​of newborns referred to here can be determined by performing gene testing on cells of newborns, embryonic cells, and cells of parents in the pregnancy preparation period.

[0082] Specifically, the pathogenic gene detection device can determine a first average value and a second average value. The first average value is the average value of the pathogenic gene carrying values ​​of sick newborns in the past n years. The second average value is the average value of the pathogenic gene carrying values ​​of non-sick newborns in the past n years. n is a positive number. The pathogenic gene detection device can compare and analyze the first average value and the second average value and output the detection result.

[0083] In some embodiments of the present application, the first average value is not less than the second average value. If the pathogenic gene carrying value is greater than the first average value, the test result is that the probability of the target object suffering from the disease is the first prevalence. If the pathogenic gene carrying value is not greater than the first average value and is not less than the second average value, the test result is that the probability of the target object suffering from the disease is the second prevalence. If the pathogenic gene carrying value is less than the second average value, the test result is that the probability of the target object suffering from the disease is the third prevalence. Among them, the first prevalence is greater than the second prevalence. The second prevalence is greater than the third prevalence.

[0084] That is to say, when the first average value is not less than the second average value, if the pathogenic gene carrying value is greater than the first average value, the test result is that the target object has a high probability of getting the disease. Similarly, when the first average value is not less than the second average value, if the pathogenic gene carrying value is not greater than the first average value and not less than the second average value, the test result is that the target object has a medium probability of getting the disease. Similarly, when the first average value is not less than the second average value, if the pathogenic gene carrying value is less than the second average value, the test result is that the target object has a low probability of getting the disease.

[0085] In some embodiments of the present application, the first average value is less than the second average value. The pathogenic gene detection device can determine a third average value. The third average value is the average value of the first average value and the second average value. If the pathogenic gene carrying value is not less than the third average value, the test result is that the probability of the target object suffering from the disease is the fourth prevalence. If the pathogenic gene carrying value is less than the third average value, the test result is that the probability of the target object suffering from the disease is the fifth prevalence. Among them, the fourth prevalence is greater than the fifth prevalence.

[0086] That is to say, when the first average value is less than the second average value, the pathogenic gene detection device can determine a third average value. If the pathogenic gene carrying value is not less than the third average value, the test result is that the probability of the target object suffering from the disease is high. If the pathogenic gene carrying value is less than the third average value, the test result is that the probability of the target object suffering from the disease is low.

[0087] In summary, the pathogenic gene detection method provided in the present application can more comprehensively detect the pathogenic genes that the target object may carry, and predict the probability of the target object suffering from the disease, thereby preventing birth defects of the target object in a timely manner and preparing effective treatment methods as early as possible.

[0088] The above embodiments have described in detail the pathogenic gene detection method provided by the present application. In order to facilitate better implementation of the above scheme, correspondingly, the following also provides related devices for supporting implementation.

[0089] like Figure 3 As shown, Figure 3 A schematic diagram of a pathogenic gene detection device provided in an embodiment of the present application, the pathogenic gene detection device is used to perform the above Figure 2 The pathogenic gene detection method shown. The present application does not limit the division of the functional units of the pathogenic gene detection device, and the various units in the pathogenic gene detection device can be increased, reduced or merged as needed. In addition, the operations and / or functions of the various units in the pathogenic gene detection device are respectively to achieve the above Figure 2 For the sake of brevity, the corresponding process of the described method will not be repeated here.

[0090] Figure 3 An exemplary division of functional units is provided: the pathogenic gene detection device 300 may include a screening unit 310 , a pathogenic gene carrying value calculation unit 320 , an analysis unit 330 and an output unit 340 .

[0091] The screening unit 310 is used to screen the genes in the extracted cells based on the pathogenic gene database and determine the pathogenic gene set. It can be understood that the specific manner in which the screening unit 310 performs the above operation can refer to step S201, which will not be repeated here.

[0092] The pathogenic gene carrying value calculation unit 320 is used to determine the pathogenic gene carrying value according to the pathogenic gene set. It can be understood that the specific manner in which the pathogenic gene carrying value calculation unit 320 performs the above operation can refer to step S202, which will not be repeated here.

[0093] The analysis unit 330 is used to compare and analyze the pathogenic gene carrying value according to the historical gene detection data. It can be understood that the specific manner in which the analysis unit 330 performs the above operation can refer to step S203, which will not be repeated here.

[0094] The output unit 340 is used to output the detection result. It can be understood that the specific operation can refer to step S203, which will not be repeated here.

[0095] Among them, the pathogenic gene database includes multiple pathogenic genes. The pathogenic gene set is a set of genes in the cell that are identical to the pathogenic genes in the pathogenic gene database. The pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the cell.

[0096] See also Figure 4 , Figure 4 The electronic device 400 may be the dependent pathogenic gene detection device 300 in the above-mentioned embodiment. Figure 4 As shown, the electronic device 400 includes: a processor 410 , a communication interface 420 and a memory 430 , and the processor 410 , the communication interface 420 and the memory 430 are interconnected via an internal bus 440 .

[0097] The processor 410, the communication interface 420 and the memory 430 can be connected via a bus, or can communicate via other means such as wireless transmission. The embodiment of the present application takes the connection via bus 440 as an example, wherein the bus 440 can be a peripheral component interconnect standard (Peripheral Component Interconnect, PCI) bus or an extended industry standard architecture (Extended Industry Standard Architecture, EISA) bus, etc. The bus 440 can be divided into an address bus, a data bus, a control bus, etc. For ease of representation, Figure 4 Only one thick line is used in the diagram, but this does not mean that there is only one bus or only one type of bus.

[0098] The processor 410 may be composed of one or more general-purpose processors, such as a central processing unit (CPU), or a combination of a CPU and a hardware chip. The hardware chip may be an application-specific integrated circuit (ASIC), a programmable logic device (PLD), or a combination thereof. The PLD may be a complex programmable logic device (CPLD), a field programmable gate array (FPGA), a generic array logic (GAL), or any combination thereof. The processor 410 executes various types of digital storage instructions, such as software or firmware programs stored in the memory 430, which enables the electronic device 400 to provide a wide variety of services.

[0099] Specifically, the processor 410 may be composed of at least one general-purpose processor, such as a central processing unit (CPU), or a combination of a CPU and a hardware chip. The above-mentioned hardware chip may be an application-specific integrated circuit (ASIC), a programmable logic device (PLD) or a combination thereof. The above-mentioned PLD may be a complex programmable logic device (CPLD), a field programmable gate array (FPGA), a generic array logic (GAL) or any combination thereof. The processor 410 executes various types of digital storage instructions, such as software or firmware programs stored in the memory 430, which enables the electronic device 400 to provide a wide variety of services. In some embodiments of the present application, the processor 410 may be used to execute Figure 2 The method for detecting pathogenic genes is shown.

[0100] The memory 430 may include a volatile memory (Volatile Memory), such as a random access memory (Random Access Memory, RAM); the memory 430 may also include a non-volatile memory (Non-Volatile Memory), such as a read-only memory (Read-Only Memory, ROM), a flash memory (Flash Memory), a hard disk drive (Hard Disk Drive, HDD) or a solid-state drive (SSD); the memory 430 may also include a combination of the above types. Among them, the memory 430 may store application code and program data. The code of the memory 430 may include a code to implement the function of the screening unit, a code to implement the function of the pathogenic gene carrier value unit, and a code to implement the function of the analysis unit. The functions of the screening unit include Figure 3 The function of the screening unit 310 in the example is to screen the genes in the extracted cells based on the pathogenic gene database and determine the pathogenic gene set. The functions of the pathogenic gene carrying value unit include Figure 3 The function of the pathogenic gene carrying value unit 320 in the analysis unit includes: Figure 3The function of the analysis unit 330 in the embodiment. For example, the pathogenic gene carrying value is compared and analyzed according to the historical gene detection data. It can be understood that the code of the memory 430 can be specifically used to execute the steps S201 to S203 in the above-mentioned embodiment, which will not be repeated here.

[0101] The communication interface 420 can be a wired interface (such as an Ethernet interface), an internal interface (such as a high-speed serial computer expansion bus (Peripheral Component Interconnect express, PCIe) bus interface), a wired interface (such as an Ethernet interface) or a wireless interface (such as a cellular network interface or a wireless local area network interface) for communicating with other devices or modules.

[0102] Need to explain, Figure 4 This is only a possible implementation of the embodiment of the present application. In practical applications, the electronic device may also include more or fewer components, which is not limited here. Figure 2 The relevant explanations in the embodiments are not repeated here. Figure 4 The electronic device shown may also be a computer cluster composed of multiple computing nodes, which is not specifically limited in this application.

[0103] The present application also provides a computer-readable storage medium, wherein the computer-readable storage medium stores instructions, which, when executed on a processor, Figure 2 The method flow shown is realized.

[0104] The present application also provides a computer program product. When the computer program product is run on a processor, Figure 2 The method flow shown is realized.

[0105] The above embodiments can be implemented in whole or in part by software, hardware, firmware or any other combination. When implemented by software, the above embodiments can be implemented in whole or in part in the form of a computer program product. The computer program product includes one or more computer instructions. When the computer program instructions are loaded or executed on a computer, the process or function described in the embodiment of the present invention is generated in whole or in part. The computer can be a general-purpose computer, a special-purpose computer, a computer network, or other programmable device. The computer instructions can be stored in a computer-readable storage medium, or transmitted from one computer-readable storage medium to another computer-readable storage medium. For example, the computer instructions can be transmitted from a website site, computer, server or data center to another website site, computer, server or data center by wired (e.g., coaxial cable, optical fiber, digital subscriber line (DSL)) or wireless (e.g., infrared, wireless, microwave, etc.) mode. The computer-readable storage medium can be any available medium that can be accessed by a computer or a data storage device such as a server or data center that contains one or more available media sets. The available medium may be a magnetic medium (eg, a floppy disk, a hard disk, a magnetic tape), an optical medium (eg, a high-density digital video disc (DVD), or a semiconductor medium. The semiconductor medium may be an SSD.

[0106] The above is only a specific embodiment of the present invention, but the protection scope of the present invention is not limited thereto. Any technician familiar with the technical field can easily think of various equivalent modifications or replacements within the technical scope disclosed by the present invention, and these modifications or replacements should be included in the protection scope of the present invention. Therefore, the protection scope of the present invention shall be based on the protection scope of the claims.

Claims

1. A method for detecting pathogenic genes, characterized in that: include: Screening the genes in the extracted cells based on the pathogenic gene database and determining the pathogenic gene set; The pathogenic gene database includes multiple pathogenic genes; The pathogenic gene set is a set of genes in the cell that are identical to the pathogenic genes in the pathogenic gene database; Determine a pathogenic gene carrying value according to the pathogenic gene set; the pathogenic gene carrying value is used to indicate the proportion of key pathogenic genes in the genes of the cell, and the key pathogenic gene is the pathogenic gene included in the pathogenic gene set after removing the first pathogenic gene or the second pathogenic gene; wherein a first ratio of the number of newborns carrying the first pathogenic gene and suffering from the first disease to the number of newborns carrying the first pathogenic gene in the past n years is less than a first threshold value, the first disease is a disease caused by the first pathogenic gene, and n is a positive number; the genetic susceptibility degree of the second pathogenic gene is less than a second threshold value, and the genetic susceptibility degree is used to characterize the relationship between pathogenic genes and environmental factors in the process of disease occurrence, and the greater the genetic susceptibility degree, the greater the role of pathogenic genes in the process of disease occurrence; The pathogenic gene carrying value is compared and analyzed according to the historical gene detection data, and the detection result is output.

2. The method according to claim 1, characterized in that Determining the pathogenic gene carrying value according to the pathogenic gene set specifically includes: Determining the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene; The pathogenic gene carrying value is determined based on the weight.

3. The method according to claim 2, characterized in that Determining the weight corresponding to the key pathogenic gene according to the genetic susceptibility degree of the key pathogenic gene specifically includes: If the key pathogenic gene includes a pathogenic gene that causes a polygenic genetic disease, the weight corresponding to the key pathogenic gene is determined based on the degree of influence of the pathogenic gene on the polygenic genetic disease and the genetic susceptibility of the pathogenic gene; the greater the degree of influence of the pathogenic gene on the polygenic genetic disease and the higher the genetic susceptibility of the pathogenic gene, the greater the weight corresponding to the key pathogenic gene.

4. The method according to any one of claims 1 to 3, characterized in that: The historical gene detection data includes the pathogenic gene carrying values ​​of newborns in the past n years; n is a positive number; The analyzing the pathogenic gene carrying value according to the historical gene detection data and outputting the detection result specifically includes: Determine a first average value; the first average value is the average value of the pathogenic gene carrying values ​​of sick newborns in the past n years; Determine a second average value; the second average value is the average value of the pathogenic gene carrying values ​​of newborns without the disease in the past n years; The first average value and the second average value are compared and analyzed, and a detection result is output.

5. The method according to claim 4, characterized in that The cell is a cell of the target subject or a cell of a parent of the target subject; The outputting a detection result based on the first average value and the second average value specifically includes: In the case where the first average value is not less than the second average value, if the pathogenic gene carrying value is greater than the first average value, the test result is that the probability of the target object suffering from the disease is the first disease rate; if the pathogenic gene carrying value is not greater than the first average value and is not less than the second average value, the test result is that the probability of the target object suffering from the disease is the second disease rate; if the pathogenic gene carrying value is less than the second average value, the test result is that the probability of the target object suffering from the disease is the third disease rate; In the case where the first average value is less than the second average value, a third average value is determined; the third average value is the average value of the first average value and the second average value; if the pathogenic gene carrying value is not less than the third average value, the test result is that the probability of the target subject suffering from the disease is the fourth disease rate; if the pathogenic gene carrying value is less than the third average value, the test result is that the probability of the target subject suffering from the disease is the fifth disease rate; Among them, the first morbidity is greater than the second morbidity; the second morbidity is greater than the third morbidity; the fourth morbidity is greater than the fifth morbidity.

6. A pathogenic gene detection device, characterized in that: The apparatus comprises means for performing the method according to any one of claims 1 to 5.

7. A computer device, characterized in that: include: A processor and a memory, wherein the memory stores a computer program, and the processor executes the computer program in the memory to implement the method according to any one of claims 1 to 5.

8. A computer-readable storage medium storing a computer program, characterized in that: When the computer program is executed on a computer, the computer is caused to execute the method according to any one of claims 1 to 5.

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