Method for constructing mutation set and its application

Abstract

The present invention provides a method for constructing a mutation set and its application, the method comprising: (1) determining the minimum value of the number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; and (2) selecting a predetermined number of mutations from a predetermined initial set to obtain the mutation set, the predetermined number being not less than the minimum value in step (1), wherein the initial set comprises a plurality of mutation sites, at least a portion of the plurality of mutation sites satisfying the following conditions: (a) the maximum genotype probability of the mutation site is not more than 0.5; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the plurality of mutation sites; and (e) the mutation site satisfies Havenberg equilibrium.

Description

Technical Field

[0001] The present invention relates to the field of bioinformatics, and in particular, to a method for constructing a mutation set and its application, and more particularly, to a mutation set, an apparatus for constructing a mutation set, an application for identifying an individual based on the mutation set, a non-transitory storable medium, a computer device, and a computer program product. Background Art

[0002] Currently, the primary technology used in individual identification in the judicial field is short tandem repeat (STR) polymorphism technology. This technology is primarily used to identify two individuals (e.g., a suspect at a crime scene and a random individual). In this scenario, a statistic called "discrimination power" (DP) is used as an evaluation metric to measure the effectiveness of a genetic marker system in identifying different individuals. DP considers the probability that two random individuals differ in their genetic markers. This process is known in statistics as a "single Bernoulli trial."

[0003] The focus of this method is to ensure that the "average effectiveness" of distinguishing two individuals in a single comparison is maximized, that is, to ensure that the DP value of an average comparison is maximized.

[0004] However, this principle of maximizing DP has many problems when used to construct a DNA identity card for the entire population (a DNA identity card requires that each individual in the population has a unique identifier). Therefore, it is necessary to develop new methods for constructing an individual differentiation system. Summary of the Invention

[0005] This application is based on the inventor's discovery and understanding of the following problems:

[0006] According to existing technology, while maximizing DP, the selected genetic markers are not optimal for the sites required for DNA IDs in the entire population. This is because a true DNA ID must ensure that every individual is uniquely identifiable within the population. This requires that the DNA ID information of any individual in the population must be unique compared to all others in the population, or the probability of duplicate DNA IDs must be sufficiently low. This process is not a single Bernoulli experiment of DP, but rather multiple Bernoulli sampling experiments across populations. Therefore, DP, based on its fundamental mathematical principles, is unsuitable for DNA IDs in the entire population.

[0007] The calculation result of the individual recognition ability DP is a numerical value that is independent of the population base. This means that regardless of the size of the group, the same DP is used as the individual recognition ability. This calculation method is suitable for a single Bernoulli trial because only two people are compared each time, and only one comparison is required. However, it is not suitable for a group's DNA ID card. The probability of duplication of the set of polymorphic sites that constitute the DNA ID card in the group (the collision probability in this invention) will change with the change in the population base. However, DP obviously cannot accurately describe this problem, and it is also impossible to calculate how to choose the size of DP for any given population base.

[0008] For example, DP cannot calculate the probability of uniquely identifying individuals in a population of 100 people and 10 billion people under the same set of sites. In other words, it cannot calculate how large a DP is needed to effectively distinguish individual identities in a population of 100 people and 10 billion people respectively. DP usually only chooses to give a value that is independent of the population base. In order to ensure that it can match a sufficiently large population base as much as possible, DP will be selected as a sufficiently sensitive value - a value with a sufficiently low probability of duplication.

[0009] Based on the above problems and analysis, DP cannot meet the needs of building a DNA ID card for the population. Therefore, it is necessary to build a new set of principles and methods for individual unique identity identification.

[0010] The present invention aims to solve one of the technical problems in the related art at least to a certain extent.

[0011] To this end, in a first aspect of the present invention, a method for constructing a mutation set is proposed, wherein the mutation set is used for identifying individuals in a population. According to an embodiment of the present invention, the method comprises: (1) determining a minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; and (2) selecting a predetermined number of mutations from a predetermined initial set to obtain the mutation set, wherein the predetermined number is not less than the minimum value in step (1), wherein the initial set includes multiple mutation sites, and at least a portion of the multiple mutation sites meet the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation site meets the Havenberg equilibrium. The method according to an embodiment of the present invention can quickly and easily construct a mutation set for distinguishing individuals within a population. The number of required mutation sites can be determined based on the population size to ensure that any element within the constructed mutation set is distinct from the other elements in the mutation set, thereby ensuring that the individuals in the population corresponding to each element in the mutation set can be distinguished from the other individuals based on the elements in the mutation set. Furthermore, based on the application scenario of DNA identity cards, the present invention constructs a new method for solving the problem of uniquely identifying individuals in a population and the problem of optimal selection of genetic markers.

[0012] According to an embodiment of the present invention, the above method may further include at least one of the following additional technical features:

[0013] According to an embodiment of the present invention, the mutation includes at least one selected from SNP, STR, and Indel. The method according to an embodiment of the present invention is applicable to a variety of nucleic acid mutation sites: all mutation sites based on single base polymorphism sites (SNPs), STRs, and mutations that exist on the genome and can be stably transmitted in biological populations.

[0014] According to an embodiment of the present invention, in step (1), the minimum value is determined based on the following formula: Where m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the collision probability threshold, determined as a / n, where n is the total number of individuals in the population and a is any value greater than 0 and less than or equal to 1, preferably 0.05, 0.01, 0.001, or 0.0001. According to the method of an embodiment of the present invention, the predetermined collision probability threshold α and the total number of individuals in the predetermined population, n, are substituted into the formula to calculate the minimum number of mutation sites required to construct a DNA ID for the predetermined population.

[0015] According to an embodiment of the present invention, the initial set includes at least the following:

[0016]

[0017]

[0018]

[0019] According to the method of an embodiment of the present invention, based on SNP sites, the inventors screened out a total of 258 mutation sites suitable for constructing mutation sets in the Chinese population through the Chinese Gene Frequency Database (https: / / db.cngb.org / cmdb / ). These mutation sites are particularly suitable for constructing Chinese DNA identity cards.

[0020] In a second aspect, the present invention provides a mutation set for identifying individuals in a population. According to an embodiment of the present invention, the mutation set consists of multiple mutation sites, wherein the number of the multiple mutation sites satisfies the following conditions: Wherein, m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the predetermined collision probability threshold, and each of the multiple mutation sites satisfies the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygosity ratio of the mutation site is not less than 0.4; (c) the mutation site is not located in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation site satisfies Havenberg equilibrium. According to an embodiment of the present invention, the mutation set can ensure that any element in the mutation set is distinguishable from other elements in the mutation set, and further ensure that the individual in the population corresponding to each element in the mutation set can be distinguished from other individuals based on the element in the mutation set.

[0021] According to an embodiment of the present invention, the above mutation set may further include at least one of the following additional technical features:

[0022] According to an embodiment of the present invention, α is determined based on a / n, where n is the total number of individuals in the population, and a is any value greater than 0 and less than or equal to 1, preferably 0.05, 0.01, 0.001, and 0.0001. According to the mutation set of an embodiment of the present invention, α is the collision probability threshold. For the sequence string that constitutes the DNA ID card, it must be unique within the population, that is, the probability of collision within the population must be sufficiently low. Therefore, when the mutation set is used to construct the DNA ID card of the population, the maximum value of the collision probability threshold must be determined to facilitate the subsequent calculation of the minimum value of the required mutation sites.

[0023] In a third aspect of the present invention, a mutation set is provided. According to an embodiment of the present invention, the mutation set includes at least one portion selected from the following:

[0024]

[0025]

[0026]

[0027] According to the mutation set of an embodiment of the present invention, based on SNP sites, the inventors screened out a total of 258 mutation sites suitable for constructing mutation sets in the Chinese population through the Chinese Gene Frequency Database (https: / / db.cngb.org / cmdb / ). These mutation sites are particularly suitable for constructing Chinese DNA identity cards.

[0028] In a fourth aspect, the present invention provides a method for identifying an individual. According to an embodiment of the present invention, the method comprises: determining mutation information for the individual for each mutation site in a predetermined mutation set; and identifying the individual based on the mutation information, wherein the predetermined mutation set is constructed using the mutation set construction method described above.

[0029] In a fifth aspect, the present invention provides a device for constructing a mutation set. According to an embodiment of the present invention, the device includes: a module for determining the minimum number of mutation sites, which determines the minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; a module for constructing an initial set, which is connected to the module for determining the minimum number of mutation sites, and constructs the initial set based on the following conditions, so that at least a portion of the mutation sites in the initial set meet the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation sites meet Havenberg equilibrium; and a module for determining a mutation set, which is connected to the module for constructing the initial set, and selects a predetermined number of mutations from the predetermined initial set to obtain the mutation set, wherein the predetermined number is not less than the minimum value determined by the module for determining the minimum number of mutation sites. The device according to an embodiment of the present invention is suitable for executing the method for constructing a mutation set described above, so that a mutation set for distinguishing individuals within a population can be conveniently and quickly constructed, and the number of required mutation sites can be determined based on the population size to ensure that any element in the constructed mutation set is distinguishable from other elements in the mutation set, thereby ensuring that the individuals in the population corresponding to each element in the mutation set can be distinguished from other individuals based on the elements in the mutation set.

[0030] In a sixth aspect, the present invention provides a computer-readable storage medium storing a computer program that, when executed by a processor, implements the steps of the method for constructing a mutation set. This effectively implements the aforementioned method for constructing a mutation set, thereby enabling the convenient and rapid construction of a mutation set for distinguishing individuals within a population.

[0031] In a seventh aspect of the present invention, the present invention proposes a computer device comprising a processor and a memory; wherein the processor reads the executable program code stored in the memory to run a program corresponding to the executable program code, so as to implement the method of constructing a mutation set.

[0032] In an eighth aspect of the present invention, the present invention provides a computer program product. When instructions in the computer program product are executed by a processor, the method for constructing a mutation set is performed.

[0033] Additional aspects and advantages of the present invention will be set forth in part in the description which follows and, in part, will be obvious from the description which follows, or may be learned by practice of the present invention. BRIEF DESCRIPTION OF THE DRAWINGS

[0034] The above and / or additional aspects and advantages of the present invention will become apparent and readily understood from the following description of the embodiments with reference to the accompanying drawings, in which:

[0035] Figure 1 A schematic diagram of a process for constructing a mutation set according to an embodiment of the present invention;

[0036] Figure 2 A block diagram of a device for constructing a mutation set according to an embodiment of the present invention;

[0037] Figure 3 This is a SNP selection process according to an embodiment of the present invention. DETAILED DESCRIPTION

[0038] The following describes embodiments of the present invention in detail, examples of which are shown in the accompanying drawings, wherein the same or similar reference numerals throughout represent the same or similar elements or elements having the same or similar functions. The embodiments described below with reference to the accompanying drawings are exemplary and are intended to be used to explain the present invention, and are not to be construed as limiting the present invention.

[0039] Furthermore, the terms "first" and "second" are used for descriptive purposes only and should not be construed as indicating or implying relative importance or implicitly specifying the number of the technical features being referred to. Thus, a feature defined as "first" or "second" may explicitly or implicitly include at least one such feature. In the description of the present invention, "plurality" means at least two, such as two, three, etc., unless otherwise specifically defined.

[0040] In the present invention, unless otherwise specified or limited, the terms "installed," "connected," "connect," "fixed," etc. should be understood in a broad sense. For example, they can refer to fixed connection, detachable connection, or integration; mechanical connection, electrical connection; direct connection, or indirect connection through an intermediate medium; internal communication between two components, or interaction between two components, unless otherwise specified. Those skilled in the art will understand the specific meanings of the above terms in the present invention based on specific circumstances.

[0041] It should be noted that the single nucleotide polymorphism (SNP) used in this article refers to a DNA sequence polymorphism caused by a variation of a single nucleotide at the genomic level.

[0042] It should be noted that the insertion / deletion marker (Indel) used in this article refers to a certain number of nucleotide insertions or deletions in the genome.

[0043] It should be noted that the short tandem repeat (STR) used herein refers to a class of DNA polymorphic loci that are widely present in the human genome.

[0044] In a first aspect of the present invention, a method for constructing a mutation set is provided, wherein the mutation set is used to identify individuals in a population. Figure 1 , the method comprising:

[0045] S100, determining a minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; and

[0046] S200, selecting a predetermined number of mutations from a predetermined initial set to obtain the mutation set, wherein the predetermined number is not less than the minimum value in step S100, wherein the initial set includes multiple mutation sites, and at least a portion of the multiple mutation sites meet the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygosity ratio of the mutation site is not less than 0.4; (c) the mutation site is not located in a repetitive sequence region; (d) there is no linkage disequilibrium between the multiple mutation sites; and (e) the mutation sites meet Havenberg equilibrium. According to a specific embodiment of the present invention, a minimum number of required mutation sites is calculated based on the number of individuals in the predetermined population and a predetermined collision probability threshold, and then the mutation sites are selected from the initial set to form a sequence string. The resulting sequence string is a DNA identity card. Each individual in the predetermined population can obtain at least one sequence string for individual identity authentication, and the obtained sequence string is unique within the predetermined population.

[0047] According to an embodiment of the present invention, the mutation includes at least one selected from SNP, STR, and Indel. The method according to an embodiment of the present invention is applicable to a variety of nucleic acid mutation sites: all mutation sites based on single base polymorphism sites, STRs, and mutation sites that exist on the genome and can be stably transmitted in biological populations.

[0048] According to an embodiment of the present invention, in step S100, the minimum value is determined based on the following formula: Where m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the collision probability threshold. The method according to an embodiment of the present invention, based on the application scenario of DNA ID cards, solves the problem of uniquely identifying individuals in a population and the problem of optimal selection of genetic markers. It also calculates the minimum number of qualified genetic markers that should be selected as a DNA ID card for identity recognition in a given population base (e.g., 1.4 billion people).

[0049] According to a specific embodiment of the present invention, first, the inventors established a mathematical model to describe the above-mentioned application scenario. Assume that the population base is n (n represents the total number of the population, and n>>1), the number of genetic marker sites (such as SNPs) required for the DNA ID card is m (m>0), and the distribution frequency of the mutant base at each site is p. At all the dimorphic single-base polymorphism sites in the genome, each site has three different genotypes, and each genotype has a certain distribution frequency in the population. Assuming that each of the selected SNP sites is independent of each other, the genotype distribution frequency of each site can be calculated with the help of Hardy-Weinberg equilibrium, and the results are shown in Table 1 below.

[0050] Table 1: Genotype distribution frequency of genetic marker loci

[0051]

[0052] Where A and a represent the two bases at any dimorphic SNP site i, and assume that a is a mutant, and the mutation frequency of a in the population is p i , then the distribution frequencies of the three genotypes AA, Aa and aa at this site are as shown in the table above.

[0053] In the above, each genotype combination of m sites can form an independent DNA sequence string, and each sequence string is unique. All genotype combination sequence strings are collected together to form a total set. The number of sequence strings in this set is s, and the probability of existence of any sequence string is PE k (k=1, 2, ..., s), since these m sites are independent of each other, the probability of existence of each sequence string is calculated as:

[0054]

[0055] The inventors call the repeated occurrence of sequence string combinations in a population "sequence collisions," and the probability of a sequence string k composed of m sites colliding in a population is called the "probability of collision." Assuming the total population size is n, the collision probability distribution of this sequence is shown in Table 2:

[0056] Table 2: Sequence collision probability

[0057]

[0058] According to the probability distribution shown in Table 2, the cumulative probability of sequence string k colliding twice or more in the population can be calculated as:

[0059] c(k)=1-(1-PE) n -nPE(1-PE) n-1 ≈1-(1+nPE)(1-PE) n (Formula 2)

[0060] Since the sequence string that constitutes the DNA ID card must be unique in the group, that is, the probability of collision in the group must be low enough, assuming that α is the maximum threshold of the collision probability, that is, the requirement is:

[0061] C(k)≤α

[0062] In addition, since it can be proved that there is a probability PE k The expectation is:

[0063]

[0064] And in real application scenarios, in order to ensure the uniqueness of individual DNA ID information in the group, there will be s≥n. At the same time, since n>>1, the expectation of the above probability is Therefore, the number of times the sequence string k appears in the population approximately follows a Poisson distribution.

[0065] Therefore, Formula 2 can be approximately simplified as:

[0066]

[0067] Solving formula 3 yields:

[0068]

[0069] In order to ensure that (Formula 4) holds true for all sequence strings in the set s, PE k The maximum value of should also meet the following conditions:

[0070]

[0071] Through calculation, we know that when the gene mutation frequency is selected The minimum number of combinations of m can be obtained when the site is , forming a sequence string as a DNA ID card. The collision probability is:

[0072]

[0073] The above is the complete mathematical model of DNA ID card. According to the result of formula 6, when the total number of people is n=10, 10When the population is 10 billion, it is sufficient to select m ≥ 43 two-base polymorphic sites with mutation base frequencies around 0.333 and 0.667 to ensure that the probability of each person's DNA identity card being repeated with others is less than one in 10 billion.

[0074] According to an embodiment of the present invention, the initial set includes at least a part of the following:

[0075]

[0076]

[0077] According to the method of an embodiment of the present invention, based on SNP sites, the inventors screened a total of 258 mutation sites suitable for constructing mutation sets in the Chinese population through the Chinese Gene Frequency Database (https: / / db.cngb.org / cmdb / ). These mutation sites can be used to construct Chinese DNA identity cards.

[0078] In a second aspect, the present invention provides a mutation set for identifying individuals in a population. According to an embodiment of the present invention, the mutation set consists of multiple mutation sites, wherein the number of the multiple mutation sites satisfies the following conditions: Wherein, m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the predetermined collision probability threshold, and each of the multiple mutation sites satisfies the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygosity ratio of the mutation site is not less than 0.4; (c) the mutation site is not located in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation site satisfies Havenberg equilibrium. According to an embodiment of the present invention, the mutation set can ensure that any element in the mutation set is distinguishable from other elements in the mutation set, and further ensure that the individual in the population corresponding to each element in the mutation set can be distinguished from other individuals based on the element in the mutation set.

[0079] According to an embodiment of the present invention, the above mutation set may further include at least one of the following additional technical features:

[0080] According to an embodiment of the present invention, α is determined based on a / n, where n is the total number of individuals in the population, and a is any value greater than 0 and less than or equal to 1, preferably 0.05, 0.01, 0.001, or 0.0001. According to the mutation set of an embodiment of the present invention, α is the collision probability threshold. For the sequence string that constitutes the DNA ID card, it must be unique within the population, that is, the probability of collision within the population must be sufficiently low. Therefore, when the mutation set is used to construct the DNA ID card of the population, the maximum value of the collision probability threshold must be determined to facilitate the subsequent calculation of the minimum value of the desired mutation sites.

[0081] In a third aspect of the present invention, a mutation set is provided. According to an embodiment of the present invention, the mutation set includes at least one portion selected from the following:

[0082]

[0083]

[0084]

[0085] According to the mutation set of an embodiment of the present invention, based on SNP sites, the inventors screened out a total of 258 mutation sites suitable for constructing mutation sets in the Chinese population through the Chinese Gene Frequency Database (https: / / db.cngb.org / cmdb / ). These mutation sites are particularly suitable for constructing Chinese DNA identity cards.

[0086] In a fourth aspect, the present invention provides a method for identifying an individual. According to an embodiment of the present invention, the method comprises: determining mutation information for the individual for each mutation site in a predetermined mutation set; and identifying the individual based on the mutation information, wherein the predetermined mutation set is constructed using the mutation set construction method described above.

[0087] In a fifth aspect of the present invention, the present invention provides a device for constructing a mutation set. According to an embodiment of the present invention, reference Figure 2The apparatus includes: a module 100 for determining the minimum number of mutation sites, for determining the minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; a module 200 for constructing an initial set, for constructing the initial set based on the following conditions, so that at least a portion of the mutation sites in the initial set meet the following conditions: (a) the maximum genotype probability of the mutation site is no more than 0.5, preferably, the maximum genotype probability of the mutation site is 4 / 9; (b) the heterozygous ratio of the mutation site is no less than 0.4; (c) the mutation site is not located in a repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation sites meet Havenberg equilibrium; and a module 300 for determining the mutation set, for selecting a predetermined number of mutations from the predetermined initial set to obtain the mutation set, wherein the predetermined number is no less than the minimum value determined by the module for determining the minimum number of mutation sites. The apparatus for constructing a mutation set according to an embodiment of the present invention is suitable for executing the method for constructing a mutation set described above, thereby enabling convenient and rapid construction of a mutation set for distinguishing individuals within a population. Furthermore, the number of required mutation sites can be determined based on the population size to ensure that any element within the constructed mutation set is distinguishable from other elements in the mutation set, thereby ensuring that the individual in the population corresponding to each element in the mutation set can be distinguished from other individuals based on the element in the mutation set.

[0088] In a sixth aspect, the present invention provides a computer-readable storage medium storing a computer program that, when executed by a processor, implements the steps of the method for constructing a mutation set. This effectively implements the aforementioned method for constructing a mutation set, thereby enabling the convenient and rapid construction of a mutation set for distinguishing individuals within a population.

[0089] In a seventh aspect of the present invention, the present invention proposes a computer device comprising a processor and a memory; wherein the processor reads the executable program code stored in the memory to run a program corresponding to the executable program code, so as to implement the method of constructing a mutation set.

[0090] In an eighth aspect of the present invention, the present invention provides a computer program product. When instructions in the computer program product are executed by a processor, the method for constructing a mutation set is performed.

[0091] Those skilled in the art will appreciate that the features and advantages described above for the method for constructing a mutation set are all applicable to the computer-readable storage medium, computer device, and computer program product, and will not be described in detail here.

[0092] The present invention is described below with reference to specific examples. It should be noted that these examples are merely illustrative and do not limit the present invention in any way.

[0093] Example 1

[0094] According to the above theory, the inventors have developed a selection process for how to select suitable dimorphic single nucleotide polymorphism (SNP) sites, referring to Figure 3 , select SNP sites that meet the following conditions: (a) the maximum genotype probability of the mutation site is 0.5; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in the repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) the mutation site satisfies the Havenberg equilibrium.

[0095] This method can be used to select sites that meet the mutation frequency requirements and ensure that SNPs are independent of each other. The sites are shown in Table 3:

[0096] Table 3:

[0097]

[0098]

[0099] Example 2

[0100] In this embodiment, the inventors used the dataset of the 1000 Genomes Project as an example to verify the construction method of the DNA ID card. The dataset of the 1000 Genomes Project contains a total of 2504 samples. With n = 2504 and α set to 0.01 / n, calculations show that only 17 sites are needed to construct a DNA ID for this population. The first 17 candidate SNP sites were selected from the SNP sites listed in Table 3. These 17 sites are scattered across the 17 autosomes, as shown in Table 4. (Note: The 17 candidate SNP sites can be randomly selected from the sites listed in Table 3. In this example, the first 17 SNP sites in Table 3 are used as an example.)

[0101] Table 4:

[0102] CHROM POS ID CHROM POS ID CHROM POS ID chr2 240815859 rs148895494 chr12 116184485 rs2384676 chr3 1609245 rs374018 chr14 77229656 rs2270325 chr4 186903422 rs12640032 chr7 49328101 rs7795792 chr16 85531362 rs9930924 chr5 52247737 rs10471826 chr20 45136444 rs2780231 chr17 15332770 rs3109780 chr18 67461052 rs28552903 chr15 93710061 rs16947539 chr9 113597938 rs4978959 chr10 20743148 rs10828054 chr8 73443198 rs12679106 chr1 85340098 rs12022391 chr13 47152097 rs3742270

[0103] The genetic identifiers (DNA IDs) generated for these 2,504 individuals have been confirmed to be unique. It should be noted that the 17 sites mentioned above are only a subset of all sites that meet the criteria.

[0104] Therefore, the method provided by the present invention solves the theoretical construction problem of DNA identity card for the first time, and the method of the present invention is simple, effective and conducive to promotion.

[0105] In the description of this specification, the reference terms "one embodiment", "some embodiments", "example", "specific example", or "some examples" mean that the specific features, structures, materials or characteristics described in conjunction with the embodiment or example are included in at least one embodiment or example of the present invention. In this specification, the schematic representations of the above terms do not necessarily refer to the same embodiment or example. Moreover, the specific features, structures, materials or characteristics described can be combined in any one or more embodiments or examples in a suitable manner. In addition, those skilled in the art can combine and combine different embodiments or examples described in this specification and features of different embodiments or examples without contradiction.

[0106] Although the embodiments of the present invention have been shown and described above, it will be understood that the above embodiments are illustrative and are not to be construed as limitations on the present invention. A person skilled in the art may change, modify, replace and modify the above embodiments within the scope of the present invention.

Claims

1. A method for constructing a mutation set for identifying individuals in a population, characterized in that: include: (1) determining the minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; In step (1), the minimum value is determined based on the following formula: Wherein, m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the collision probability threshold; and (2) selecting a predetermined number of mutations from a predetermined initial set to obtain the mutation set, wherein the predetermined number is not less than the minimum value in step (1), The initial set includes multiple mutation sites, and at least a portion of the multiple mutation sites meets the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in the repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) The mutation site satisfies the Havenberg equilibrium.

2. The method according to claim 1, characterized in that The maximum genotype probability of the mutation site is 4 / 9.

3. The method according to claim 1, characterized in that The mutation includes at least one selected from SNP, STR, and Indel.

4. The method according to claim 1, characterized in that: The initial set includes at least a portion of the following:

5. A method for identifying an individual, characterized in that: include: For each mutation site in the predetermined mutation set, confirm the mutation information of the individual; based on the mutation information, identify the individual, Wherein, the predetermined mutation set consists of multiple mutation sites, Wherein, the number of the multiple mutation sites meets the following conditions: Wherein, m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the predetermined collision probability threshold, Each of the multiple mutation sites satisfies the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in the repetitive sequence region; (d) there is no linkage disequilibrium relationship between the multiple mutation sites; and (e) The mutation site satisfies the Havenberg equilibrium.

6. The method according to claim 5, characterized in that The maximum genotype probability of the mutation site is 4 / 9.

7. The method according to claim 5, characterized in that The α is determined based on a / n, where n is the total number of individuals in the group, and a is any value greater than 0 and less than or equal to 1.

8. The method according to claim 7, characterized in that The α is 0.05, 0.01, 0.001, or 0.0001.

9. The method according to claim 5, characterized in that The predetermined mutation set includes at least one part selected from the following:

10. A device for constructing a mutation set, characterized in that: include: A module for determining a minimum number of mutation sites, which determines a minimum number of mutation sites in the mutation set based on the total number of individuals in the population and a predetermined collision probability threshold; The minimum value is determined based on the following formula: Wherein, m represents the number of mutation sites in the mutation set; n represents the total number of individuals in the population; and α represents the collision probability threshold; The initial set construction module is connected to the module for determining the minimum number of mutation sites, and the initial set is constructed based on the following conditions, so that at least a part of the mutation sites in the initial set meet the following conditions: (a) the maximum genotype probability of the mutation site does not exceed 0.5; (b) the heterozygous ratio of the mutation site is not less than 0.4; (c) the mutation site is not in the repetitive sequence region; (d) There is no linkage disequilibrium between multiple mutation sites; and (e) the mutation site satisfies the Havenberg equilibrium; and A mutation set determination module is connected to the initial set construction module, and selects a predetermined number of mutations from a predetermined initial set to obtain the mutation set, wherein the predetermined number is not less than the minimum value determined by the module for determining the minimum number of mutation sites.

11. The device according to claim 10, characterized in that The maximum genotype probability of the mutation site is 4 / 9.

12. A non-transitory storable medium having a computer program stored thereon, characterized in that: When the program is executed by a processor, the steps of the method for constructing a mutation set according to any one of claims 1 to 4 are implemented.

13. A computer device, characterized in that: The method comprises a processor and a memory; wherein the processor runs a program corresponding to the executable program code by reading the executable program code stored in the memory, so as to implement the method for constructing a mutation set as described in any one of claims 1 to 4.

14. A computer program product, when instructions in the computer program product are executed by a processor, performs the method for constructing a mutation set according to any one of claims 1 to 4.

Images