Method, device, and computer program for extracting latest clinical significance of genetic mutation

Abstract

The present invention relates to a method for extracting the latest clinical significance of a genetic mutation, comprising the steps of: receiving unique, identifiable mutation information read by a user, a date of reading, and clinical information of the mutation read by the user; loading a database having clinical information of the mutation; searching the database for mutation information corresponding to the inputted mutation information, extracting clinical information for the searched mutation information, and comparing the extracted clinical information with the clinical information of the mutation read by the user; and summarizing whether the extracted clinical information is updated, on the basis of the date of reading.

Description

Methods, devices, and computer programs for extracting the latest clinical significance of genetic variants

[0001] This invention was made with the support of the Ministry of Science and ICT under the grant number 1711186395 and grant number 2020R1C1C1008535. The research management organization of the said project is the National Research Foundation of Korea, the research project name is "Individual Basic Research (MSIT)", the research project title is "Development of an Individualized Approach to Cerebrospinal Tumors Based on the Variation Profile of Circulating Tumor DNA in Cerebrospinal Fluid", the main organization is Soonchunhyang University, and the research period is from March 1, 2020 to February 28, 2025.

[0002] The present invention relates to a computer technology for easily confirming the clinical significance of rapidly changing human genome variations, and more particularly, to a method, device and computer program for extracting the latest clinical significance of genome variations, which can easily confirm the latest clinical significance based on an authorized database that is periodically updated.

[0003] Human genome testing, including next-generation sequencing (NGS), is usually performed as a panel analysis that includes tens to thousands of genes. Depending on the number of genes included, the number of genetic variations in an individual analyzed ranges from tens to tens of thousands. During the interpretation process, these variations are broadly classified into benign, likely benign, variant of unknown significance, likely pathogenic, and pathogenic according to internationally recognized classification standards.

[0004] The official classification criteria are based on a paper published in 2015 by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG) in the United States (Richards, Sue, et al. "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology." Genetics in medicine 17.5 (2015): 405-423.). Among the criteria, PM2, PP5, and PS3 can be announced as having clinical significance from various sources with variable variables, such as the frequency in the normal population, recent reports from official data, and functional research results in papers. In particular, the results of official databases (such as ClinVar) that comprehensively manage and periodically update these are known to be highly reliable.

[0005] Most patients' genome analysis is performed once in a lifetime, but the mutations reported as results cannot rule out variability due to subsequent studies, etc., so they must go through a process of periodic review by a specialist. Regarding this, the ACMG paper, the molecular genetic review items of the Korea Laboratory Acquisition Program Administration (90.405.400), and the review items of the Korea Institute of Genetic Testing (2.4.NGS-(s)-21) include periodic review of mutations as a basic requirement. However, the amount of individual genome mutation data is huge, and depending on the institution, hundreds of patient genetic data are analyzed annually, so it is realistically difficult to check the latest update information on mutations one by one.

[0006] The purpose of the present invention is to provide a method, device and computer program for extracting the latest clinical significance of a genetic variation, which can easily compare a large amount of human genome variation reading information.

[0007] In order to achieve the above object, the present invention is characterized in that it includes a method for extracting the latest clinical significance of a genetic mutation, the method comprising the steps of: receiving, by a user, identifiable mutation information with uniqueness read by the user, the date of reading, and clinical information of the mutation read by the user; loading a database having clinical information of the mutation; searching the database for mutation information corresponding to the input mutation information, extracting clinical information for the searched mutation information, and comparing the extracted clinical information with the clinical information of the mutation read by the user; and summarizing whether the extracted clinical information has been updated based on the date of reading.

[0008] Preferably, the input receiving step may receive one or more of the following: a transcript number, a base position, and an amino acid substitution mutation compared to a reference, an identifier number assigned to each mutation among rs, Allele ID, and Variation ID, and a reading result regarding the clinical significance of the mutation, as uniquely identifiable mutation information.

[0009] Preferably, the interpretation result for the clinical significance of the mutation may be any one of benign, likely benign, variant of unknown significance, likely pathogenic, and pathogenic.

[0010] Preferably, the input receiving step can verify whether the user-readable unique identifiable mutation information and the read date are entered in a preset format.

[0011] Preferably, the step of summarizing whether or not the update is made may include a step of determining whether clinical information has been updated prior to the date read.

[0012] Preferably, the step of summarizing whether or not the update is made may summarize 'no update' if the clinical information on the retrieved mutation information matches the clinical information on the mutation read by the user, in the case of clinical information updated before the read date, and 'invalid' if the clinical information on the retrieved mutation information does not match the clinical information on the mutation read by the user.

[0013] Preferably, the step of summarizing whether or not the update has been made may summarize, in the case of clinical information updated after the date of reading, if the clinical information on the retrieved mutation information matches the clinical information on the mutation read by the user, 'there was an update but no change', and if the clinical information on the retrieved mutation information does not match the clinical information on the mutation read by the user, 'there is no match'.

[0014] In addition, the present invention is a device for the latest clinical significance of a genetic mutation, comprising: a processor including one or more cores; and a memory; wherein the processor receives uniquely identifiable mutation information read by a user, a date of reading, and clinical information of the mutation read by the user, loads a database having clinical information of the mutation; searches for mutation information corresponding to the input mutation information in the database, extracts clinical information for the searched mutation information, compares the extracted clinical information with the clinical information of the mutation read by the user, and summarizes whether the extracted clinical information is updated based on the date of reading.

[0015] In addition, the present invention is characterized in that it is a computer program including commands stored in a computer-readable storage medium and causing a computer to perform the following operations, wherein the operations include: an operation of receiving uniquely identifiable variant information read by a user, a date of reading, and clinical information of the variant read by the user; an operation of loading a database having clinical information of the variant; an operation of searching the database for variant information corresponding to the input variant information, extracting clinical information for the searched variant information, and comparing the extracted clinical information with the clinical information of the variant read by the user; and an operation of summarizing whether the extracted clinical information is updated based on the date of reading.

[0016] The present invention has the advantage of being able to easily compare a large amount of human genome mutation reading information and being applicable to all human genome tests, including next-generation sequencing, and thus being able to be utilized for the diagnosis and tracking of diseases.

[0017] Figure 1 illustrates a flowchart of a method for extracting the latest clinical significance of genetic mutations according to an embodiment of the present invention.

[0018] Figure 2 illustrates a summary algorithm of a summarizing step according to an embodiment of the present invention.

[0019] Figure 3 shows an example of a summary output in a summarizing step according to an embodiment of the present invention.

[0020] Figure 4 shows a configuration diagram of a device for extracting the latest clinical significance of genetic mutations according to an embodiment of the present invention.

[0021] Figure 5 illustrates a schematic diagram of a computing environment according to an embodiment of the present invention.

[0022] In a method for extracting the latest clinical significance of genetic mutations,

[0023] A step of receiving user-read unique identifiable variant information, date of reading, and clinical information of the variant read by the user;

[0024] Step of loading a database containing clinical information on mutations;

[0025] A step of searching for mutation information corresponding to the input mutation information in the database, extracting clinical information about the searched mutation information, and comparing it with the clinical information of the mutation read by the user; and

[0026] A step of summarizing whether the extracted clinical information has been updated based on the date read above;

[0027] A method comprising:

[0028] Hereinafter, the present invention will be described in detail with reference to the contents described in the attached drawings. However, the present invention is not limited or restricted by the exemplary embodiments. The same reference numerals in each drawing indicate components that perform substantially the same functions.

[0029] The purpose and effects of the present invention can be naturally understood or made clearer by the following description, and the purpose and effects of the present invention are not limited solely by the following description. Furthermore, in describing the present invention, if a detailed description of known technologies related to the present invention is deemed to unnecessarily obscure the gist of the present invention, such detailed description will be omitted.

[0030] The terminology used herein is merely used to describe specific embodiments and is not intended to limit the present invention. The singular expression includes the plural expression unless the context clearly indicates otherwise. In this application, it should be understood that the terms "comprise" or "have" indicate the presence of a feature, number, step, operation, component, part, or combination thereof described in the description of the invention, but do not preclude the possibility of the presence or addition of one or more other features, numbers, steps, operations, components, parts, or combinations thereof.

[0031] While terms like "first" and "second" may be used to describe various components, these components should not be limited by these terms. These terms are used solely to distinguish one component from another. For example, without departing from the scope of the present invention, a first component could be referred to as a "second component," and similarly, a second component could also be referred to as a "first component."

[0032] Unless otherwise defined, all terms used herein, including technical or scientific terms, have the same meaning as commonly understood by one of ordinary skill in the art to which this invention pertains. Terms defined in commonly used dictionaries should be interpreted as having a meaning consistent with their meaning in the context of the relevant technology, and shall not be interpreted in an idealized or overly formal sense unless explicitly defined herein.

[0033] When interpreting components, even if there is no explicit description, it is interpreted as including the margin of error. When describing temporal relationships, for example, when temporal continuity is described with phrases such as "after," "following," "next to," or "before," this also includes cases where the relationship is not continuous, unless "immediately" or "directly" is used.

[0034] Hereinafter, the technical configuration of the present invention will be described in detail with reference to the attached drawings.

[0035] Figure 1 illustrates a flowchart of a method for extracting the latest clinical significance of a genetic variant according to an embodiment of the present invention. Referring to Figure 1, the method for extracting the latest clinical significance of a genetic variant may include a step of receiving information related to a variant read by a user (S100), a step of loading a database (S300), a step of comparing clinical information (S500), and a step of summarizing whether or not to update (S700).

[0036] The method for extracting the latest clinical significance of genomic variants can easily compare large amounts of human genome variant reading information and can be used in all human genome tests, including next-generation sequencing, and thus can be utilized for disease diagnosis and tracking.

[0037] A method for extracting the latest clinical significance of a genomic variant can be provided by extracting the latest updated clinical significance information from an authorized database (such as ClinVar) when a user uploads clinical significance information of a previously interpreted variant in a specific format along with the interpretation date. A method for extracting the latest clinical significance of a genomic variant can be implemented using a program based on the Python or R language. A method for extracting the latest clinical significance of a genomic variant can be implemented by comparing uniquely identifiable variant information and the interpretation date among the variant data uploaded by the user with the latest database held by the inventor, and then calculating the time difference. If the category of the clinical information of the variant has changed, the conclusion and content can be comprehensively notified to the user.

[0038] The method for extracting the latest clinical significance of genomic variants has been validated using real-world patient data, demonstrating its ease of use and providing the most efficient monitoring method. The method for extracting the latest clinical significance of genomic variants was also demonstrated to be capable of efficiently detecting differences between existing readings and the most recent information in the human genome.

[0039] The step (S100) of receiving information related to a mutation read by a user may receive uniquely identifiable mutation information read by the user, the date of reading, and clinical information of the mutation read by the user.

[0040] The uniquely identifiable variant information read by the user serves as an identifier for identifying the variant and can serve as a sort of address for searching the database for the clinical significance of the variant. The date read can serve as a reference point for determining whether to update the variant. The date read can include the year, month, and day. The clinical information of the variant read by the user can be compared with the clinical information of the variant in the database.

[0041] The input step (S100) may receive one or more of the following: 1) transcript number and base position and amino acid reference comparison substitution mutation (ex. NM_001234.5:c.123T>A, p.Val41Ile), 2) rs identifier number assigned to each mutation (ex. rs12345678), allele ID or Variation ID (ex. 12345), and a reading result on the clinical significance of the mutation. The input step (S100) may receive 1) transcript number and base position and amino acid reference comparison substitution mutation and 3) a reading result on the clinical significance of the mutation, or 2) rs identifier number assigned to each mutation, allele ID or Variation ID, and 3) a reading result on the clinical significance of the mutation. That is, the input receiving step (S100) necessarily receives 3) the reading results on the clinical significance of the mutation, and can receive only one of 1) the transcript number and the base position and the substitution mutation compared to the standard for the amino acid, and 2) the rs identifier allele ID or Variation ID number assigned to each mutation. Preferably, all of 1) the transcript number and the base position and the substitution mutation compared to the standard for the amino acid, 2) the rs identifier number assigned to each mutation, and 3) the reading results on the clinical significance of the mutation can be input.

[0042] The interpretation of the clinical significance of a variant can be one of the following: benign, likely benign, variant of unknown significance, likely pathogenic, and pathogenic.

[0043] The input step (S100) can verify whether the uniquely identifiable variant information and the date of reading, as read by the user, have been entered in a preset format. This is to determine whether essential data sufficient to enable comparison with clinical information on the variant in the database has been entered. The input step (S100) can output an error message if the input does not conform to the preset format.

[0044] The database loading step (S300) can load a database containing clinical information on mutations. The database loading step (S300) can load a large amount of publicly available data from a recognized database in the field of human genomes. Preferably, the recognized database may be ClinVar (https: / / www.ncbi.nlm.nih.gov / clinvar / ) or the Human Gene Mutation Database (http: / / www.hgmd.cf.ac.uk / ac / index.php).

[0045] The database loading step (S300) can read information from the database using a specific function, and the specific function can be written using Python or R. The aforementioned Python or R languages ​​can include libraries and functions that read files, compare files, and calculate values.

[0046] The clinical information comparison step (S500) searches the database for mutation information corresponding to the input mutation information, extracts clinical information about the retrieved mutation information, and compares it with the clinical information about the mutation read by the user. As described above, the clinical information comparison step (S500) can be implemented using a specific function written using Python or R.

[0047] The step of summarizing whether or not to update (S700) can summarize whether or not to update the extracted clinical information based on the reading date.

[0048] Figure 2 illustrates a summary algorithm for a summarizing step according to an embodiment of the present invention. Below, the step of summarizing whether or not to update will be examined in detail with reference to Figure 2.

[0049] The step (S700) of summarizing whether there is updated clinical information prior to the reading date can determine whether there is updated clinical information prior to the reading date. While it is important to determine whether clinical information has been updated after the reading date, clinical information prior to the reading date is also checked to ensure that all variant information has been compared (sorted).

[0050] The step of summarizing whether or not there is an update (S700) may summarize "no update" if the clinical information on the retrieved variant information matches the clinical information on the variant read by the user, for clinical information updated prior to the date of reading. Alternatively, "invalid" may be summarized if the clinical information on the retrieved variant information does not match the clinical information on the variant read by the user. Here, the summary may refer to any output that the user can confirm, such as provided to the user through text, etc.

[0051] Based on the date the user reads, previously updated clinical information must be consistent with the clinical information of the variant read by the user. If the previously updated clinical information based on the date the user reads does not match the clinical information of the variant read by the user, an error has occurred. Therefore, the step (S700) of summarizing whether or not an update has been made can summarize that "the previously updated clinical information based on the date the user reads is invalid if it does not match the clinical information of the variant read by the user."

[0052] In the step (S700) of summarizing whether or not there is an update, in the case of clinical information updated after the date of reading, if the clinical information on the searched variant information matches the clinical information on the variant read by the user, 'There was an update but no change' can be summarized, and if the clinical information on the searched variant information does not match the clinical information on the variant read by the user, 'There is an update but no change' can be summarized.

[0053] For clinical information updated after the date of reading, matching the clinical information for the retrieved variant with the clinical information for the variant read by the user can also be valuable information for users. In other words, updated but unchanged clinical information can enhance the reliability of the clinical information for the variant.

[0054] The step (S700) of summarizing whether an update is required can summarize "inconsistency," indicating that the clinical information of the variant has changed. As this may be the most important information to users, the step (S700) of summarizing whether an update is required can output details about the changed clinical information along with the summary "inconsistency."

[0055] FIG. 3 illustrates an example of a summary output in the summarizing step (S700) according to an embodiment of the present invention. Referring to FIG. 3, 1,000 pieces of mutation read information previously read by a user can be input into a device (100) for extracting the latest clinical significance of genetic mutations according to an embodiment of the present invention. The 1,000 pieces of mutation read information can be in a single file format and can be simply input by the user simply uploading or transmitting it to the device (100).

[0056] A device (100) for extracting the latest clinical significance of a genetic mutation can compare the clinical information of a mutation in a database with the clinical information of a mutation read by a user and output a summary. Referring to Fig. 3, for 1,000 mutation read information, 849 cases were summarized as 'no update', 1 case as 'invalid', 112 cases as 'updated but not changed', and 38 cases as 'inconsistent'. At this time, in the summary, detailed information regarding the updated mutation may be output in a part that requires detailed output. For example, detailed information regarding updated clinical information regarding a 'inconsistent' mutation may be output.

[0057] FIG. 4 illustrates a configuration diagram of a device (100) for extracting the latest clinical significance of a genetic variation according to an embodiment of the present invention. Referring to FIG. 4, the configuration of the device (100) for extracting the latest clinical significance of a genetic variation illustrated is merely a simplified example. In one embodiment of the present invention, the device (100) for extracting the latest clinical significance of a genetic variation may include other configurations for performing the computing environment of the device (100), and only some of the disclosed configurations may constitute the device (100).

[0058] A device (100) for extracting the latest clinical significance of genetic mutations may include a processor (110) including one or more cores, a memory (120), and a network (130).

[0059] The processor (110) may be composed of one or more cores and may include a processor for data analysis, such as a central processing unit (CPU), a general purpose graphics processing unit (GPGPU), or a tensor processing unit (TPU) of a computing device.

[0060] The processor (110) can receive user-readable, uniquely identifiable mutation information, the date of reading, and clinical information about the mutation read by the user. The processor (110) can perform the step (S100) of receiving the aforementioned mutation-related information.

[0061] The processor (110) can load a database containing clinical information on mutations. The processor (110) can perform the step (S300) of loading the aforementioned database.

[0062] The processor (110) can search the database for mutation information corresponding to the input mutation information, extract clinical information about the searched mutation information, and compare it with the clinical information of the mutation read by the user. The processor (110) can perform the step (S500) of comparing the clinical information described above.

[0063] The processor (110) can summarize whether the extracted clinical information has been updated based on the date of reading. The processor (110) can perform the step (S700) of summarizing whether the information has been updated as described above.

[0064] The memory (120) can store any form of information generated or determined by the processor (110) and any form of information received by the network (130).

[0065] The memory (120) may include at least one type of storage medium among a flash memory type, a hard disk type, a multimedia card micro type, a card type memory (e.g., SD or XD memory, etc.), a random access memory (RAM), a static random access memory (SRAM), a read-only memory (ROM), an electrically erasable programmable read-only memory (EEPROM), a programmable read-only memory (PROM), a magnetic memory, a magnetic disk, and an optical disk. The computing device (100) may also operate in relation to web storage that performs the storage function of the memory (120) on the internet. The description of the above-described memory is merely an example, and the present disclosure is not limited thereto.

[0066] The network (130) may use any known wired or wireless communication system. The network (130) may receive user-read mutation information, databases, etc. from related devices or systems.

[0067] The network (130) can transmit and receive information, user interfaces, etc. processed by the processor (110) through communication with other terminals. For example, the network (130) can provide a user interface generated by the processor (100) to a client (e.g., a user terminal). In addition, the network (130) can receive external input from a user authorized as a client and transmit it to the processor (110). At this time, the processor (110) can process operations such as outputting, modifying, changing, and adding information provided through the user interface based on the external input of the user received from the network (130).

[0068] Meanwhile, in one embodiment of the present disclosure, a device (100) for extracting the latest clinical significance of genetic mutations may include a server as a computing system that transmits and receives information through communication with a client. In this case, the client may be any type of terminal capable of accessing the server.

[0069] In a further embodiment, the device (100) for extracting the latest clinical significance of genetic variants may include any type of terminal that receives data resources generated from any server and performs additional information processing.

[0070] Another embodiment of the present invention, a computer program for extracting the latest clinical significance of a genetic mutation, may include an operation of receiving information related to a mutation read by a user, an operation of loading a database, an operation of comparing clinical information, and an operation of summarizing whether or not it is updated.

[0071] The action of receiving information related to a mutation read by a user may receive uniquely identifiable mutation information read by the user, the date of reading, and clinical information about the mutation read by the user. The action of receiving information related to a mutation read by the user refers to the action performed in the step (S100) of receiving information related to a mutation read by the user described above.

[0072] The database loading operation can load a database containing clinical information on mutations. The database loading operation refers to the operation performed in the aforementioned database loading step (S300).

[0073] The action of comparing clinical information may include searching the database for mutation information corresponding to the input mutation information, extracting clinical information about the retrieved mutation information, and comparing it with the clinical information of the mutation read by the user. The action of comparing clinical information refers to the action performed in the step (S500) of comparing clinical information described above.

[0074] The operation of summarizing whether or not an update is available can summarize whether or not the extracted clinical information is updated based on the reading date. The operation of summarizing whether or not an update is available refers to the operation performed in the aforementioned step of summarizing whether or not an update is available (S700).

[0075] Figure 5 illustrates a schematic diagram of a computing environment according to an embodiment of the present invention.

[0076] Although the present disclosure has been described above as being generally implemented by a computing device, those skilled in the art will appreciate that the present disclosure may be implemented in combination with computer-executable instructions and / or other program modules that may be executed on one or more computers and / or as a combination of hardware and software.

[0077] Generally, program modules include routines, programs, components, data structures, and the like that perform particular tasks or implement particular abstract data types. Furthermore, those skilled in the art will appreciate that the methods of the present disclosure can be implemented with other computer system configurations, including single-processor or multiprocessor computer systems, minicomputers, mainframe computers, as well as personal computers, handheld computing devices, microprocessor-based or programmable consumer electronics, and the like, each of which may be operatively connected to one or more associated devices.

[0078] The described embodiments of the present disclosure can also be practiced in distributed computing environments, where certain tasks are performed by remote processing devices that are linked through a communications network. In a distributed computing environment, program modules may be located in both local and remote memory storage devices.

[0079] Computers typically include a variety of computer-readable media. Computer-readable media can be any media that can be accessed by a computer, and includes both volatile and nonvolatile media, transitory and non-transitory media, removable and non-removable media. By way of example, and not limitation, computer-readable media can include computer-readable storage media and computer-readable transmission media. Computer-readable storage media includes both volatile and nonvolatile media, transitory and non-transitory media, removable and non-removable media implemented in any method or technology for storing information such as computer-readable instructions, data structures, program modules, or other data. Computer-readable storage media includes, but is not limited to, RAM, ROM, EEPROM, flash memory or other memory technology, CD-ROM, digital video disks (DVD) or other optical disk storage, magnetic cassettes, magnetic tape, magnetic disk storage or other magnetic storage devices, or any other medium that can be accessed by a computer and used to store the desired information.

[0080] Computer-readable transmission media typically includes any information delivery media that embodies computer-readable instructions, data structures, program modules, or other data in a modulated data signal, such as a carrier wave or other transport mechanism. The term modulated data signal means a signal that has one or more of its characteristics set or changed so as to encode information in the signal. By way of example, and not limitation, computer-readable transmission media includes wired media, such as a wired network or direct-wired connection, and wireless media, such as acoustic, RF, infrared, or other wireless media. Combinations of any of the above are also intended to be included within the scope of computer-readable transmission media.

[0081] An exemplary environment for implementing various aspects of the present disclosure is illustrated, including a computer (1000), which includes a processing unit (1020), a system memory (1030), and a system bus (1010). The system bus (1010) connects system components, including but not limited to the system memory (1030), to the processing unit (1020). The processing unit (1020) may be any of a variety of commercially available processors. Dual processors and other multiprocessor architectures may also be utilized as the processing unit (1020).

[0082] The system bus (1010) may be any of several types of bus structures that may be additionally interconnected to a memory bus, a peripheral bus, and a local bus using any of a variety of commercial bus architectures. The system memory (1030) includes read-only memory (ROM) (1034) and random access memory (RAM) (1032). A basic input / output system (BIOS) is stored in non-volatile memory (1034), such as ROM, EPROM, or EEPROM, and includes basic routines that help transfer information between components within the computer (1000), such as during start-up. The RAM (1032) may also include high-speed RAM, such as static RAM, for caching data.

[0083] The computer (1000) also includes an internal hard disk drive (HDD) (1050) (e.g., EIDE, SATA) - which may also be configured for external use within a suitable chassis (not shown), a magnetic floppy disk drive (FDD) (1060) (e.g., for reading from or writing to removable diskettes), and an optical disk drive (1070) (e.g., for reading from or writing to CD-ROM disks or other high-capacity optical media such as DVDs). The hard disk drive (1050), the magnetic disk drive (1060), and the optical disk drive (1070) may be connected to the system bus (1010) by a hard disk drive interface, a magnetic disk drive interface, and an optical drive interface, respectively. Interfaces for implementing external drives include at least one or both of Universal Serial Bus (USB) and IEEE 1394 interface technologies.

[0084] These drives and their associated computer-readable media provide non-volatile storage of data, data structures, computer-executable instructions, and the like. In the case of the computer (1000), the drives and media correspond to storing any data in a suitable digital format. While the description of computer-readable media above refers to HDDs, removable magnetic disks, and removable optical media such as CDs or DVDs, those skilled in the art will appreciate that other types of computer-readable media, such as zip drives, magnetic cassettes, flash memory cards, cartridges, and the like, may also be used in the exemplary operating environment, and that any such media may contain computer-executable instructions for performing the methods of the present disclosure.

[0085] A number of program modules, including an operating system (1092), one or more application programs (1094), other program modules (1096), and a database (1098), may be stored in the drive and RAM (1032). All or portions of the operating system, applications, modules, and / or data may also be cached in RAM (1032). It will be appreciated that the present disclosure may be implemented in various commercially available operating systems or combinations of operating systems.

[0086] A user may enter commands and information into the computer (1000) via one or more wired / wireless input devices (1042), such as a keyboard and a pointing device such as a mouse. Other input devices (not shown) may include a microphone, an IR remote control, a joystick, a game pad, a stylus pen, a touch screen, and the like. These and other input devices are often connected to the processing unit (1020) via an input / output interface (1040) that is connected to the system bus (1010), but may be connected by other interfaces such as a parallel port, an IEEE 1394 serial port, a game port, a USB port, an IR interface, and the like.

[0087] A monitor or other type of display device is also connected to the system bus (1010) via an interface such as a video adapter. In addition to the monitor, the computer typically includes other peripheral output devices (not shown) such as speakers, a printer, and so on.

[0088] The computer (1000) may operate in a networked environment using logical connections to one or more remote computers, such as remote computer(s) (1082), via wired and / or wireless communications. The remote computer(s) (1082) may be a workstation, a computing device computer, a router, a personal computer, a portable computer, a microprocessor-based entertainment device, a peer device, or other conventional network node, and may generally include many or all of the components described for the computer (1000). The logical connections include wired / wireless connections to a local area network (LAN) and / or a larger network, such as a wide area network (WAN). Such LAN and WAN networking environments are common in offices and companies and facilitate enterprise-wide computer networks, such as intranets, all of which may be connected to a worldwide computer network, such as the Internet.

[0089] When used in a LAN networking environment, the computer (1000) is connected to a local network (not shown) via a wired and / or wireless communication network interface or adapter (not shown). The adapter (not shown) may facilitate wired or wireless communication to the LAN (not shown), which may also include a wireless access point installed therein for communicating with the wireless adapter (not shown). When used in a WAN networking environment, the computer (1000) may include a modem (not shown), be connected to a communication computing device on the WAN (not shown), or have other means for establishing communications over the WAN (not shown), such as via the Internet. The modem (not shown), which may be internal or external and wired or wireless, is connected to the system bus (1010) via a serial port interface (not shown). In a networked environment, program modules described for the computer (1000), or portions thereof, may be stored in a remote memory / storage device (not shown). It will be appreciated that the network connections shown are exemplary and that other means of establishing a communications link between computers may be used.

[0090] The computer (1000) operates to communicate with any wireless device or object that is arranged and operates via wireless communication, such as a printer, a scanner, a desktop and / or portable computer, a portable data assistant (PDA), a communication satellite, any equipment or location associated with a radio-detectable tag, and a telephone. This includes at least Wi-Fi and Bluetooth wireless technologies. Accordingly, the communication may be a predefined structure, as in a conventional network, or simply an ad hoc communication between at least two devices.

[0091] Wi-Fi (Wireless Fidelity) enables connections to the Internet and other devices without wires. Wi-Fi is a wireless technology that allows devices, such as computers, to send and receive data anywhere within the coverage area of ​​a base station, both indoors and outdoors, similar to cell phones. Wi-Fi networks use wireless technologies called IEEE 802.11 (a, b, g, etc.) to provide secure, reliable, and high-speed wireless connections. Wi-Fi can be used to connect computers to each other, to the Internet, and to wired networks (using IEEE 802.3 or Ethernet). Wi-Fi networks can operate in the unlicensed 2.4 and 5 GHz radio bands, at data rates of, for example, 11 Mbps (802.11a) or 54 Mbps (802.11b), or in products that include both bands (dual-band).

[0092] Those skilled in the art will appreciate that information and signals may be represented using any of a variety of different technologies and techniques. For example, the data, instructions, commands, information, signals, bits, symbols, and chips referenced in the above description may be represented by voltages, currents, electromagnetic waves, magnetic fields or particles, optical fields or particles, or any combination thereof.

[0093] Those skilled in the art will appreciate that the various illustrative logical blocks, modules, processors, means, circuits, and model steps described in connection with the embodiments disclosed herein may be implemented as electronic hardware, various forms of programs or design code (referred to herein, for convenience, as software), or a combination of both. To clearly illustrate this interchangeability of hardware and software, various illustrative components, blocks, modules, circuits, and steps have been described above generally in terms of their functionality. Whether such functionality is implemented as hardware or software depends upon the particular application and design constraints imposed on the overall system. Those skilled in the art may implement the described functionality in varying ways for each particular application, but such implementation decisions should not be interpreted as causing a departure from the scope of the present disclosure.

[0094] The various embodiments presented herein can be implemented as a method, apparatus, or article of manufacture using standard programming and / or engineering techniques. The term article of manufacture includes a computer program, carrier, or media accessible from any computer-readable storage device. For example, computer-readable storage media include, but are not limited to, magnetic storage devices (e.g., hard disks, floppy disks, magnetic strips, etc.), optical disks (e.g., CDs, DVDs, etc.), smart cards, and flash memory devices (e.g., EEPROMs, cards, sticks, key drives, etc.). Furthermore, various storage media presented herein include one or more devices and / or other machine-readable media for storing information.

[0095] It should be understood that the specific order or hierarchy of steps in the presented processes is merely an example of exemplary approaches. It should be understood that the specific order or hierarchy of steps in the processes may be rearranged within the scope of the present disclosure based on design priorities. The appended method claims provide elements of various steps in a sample order, but are not intended to be limited to the specific order or hierarchy presented.

[0096] The description of the disclosed embodiments is provided to enable any person skilled in the art to make or use the present disclosure. Various modifications to these embodiments will be readily apparent to those skilled in the art, and the general principles defined herein may be applied to other embodiments without departing from the scope of the present disclosure. Therefore, the present disclosure is not intended to be limited to the embodiments disclosed herein, but is to be construed in the broadest scope consistent with the principles and novel features disclosed herein.

[0097] The embodiments of the present invention described above are not implemented solely through devices and methods. They may also be implemented through programs that implement functions corresponding to the configurations of the embodiments of the present invention, or through recording media containing such programs. Such recording media may be executed not only on servers but also on user terminals.

[0098] Although the embodiments of the present invention have been described in detail above, the scope of the present invention is not limited thereto, and various modifications and improvements made by those skilled in the art using the basic concept of the present invention defined in the following claims also fall within the scope of the present invention.

[0099] The purpose of the present invention is to provide a method, device and computer program for extracting the latest clinical significance of a genetic variation, which can easily compare a large amount of human genome variation reading information.

Claims

1. In a method for extracting the latest clinical significance of genetic mutations, A step of receiving user-read unique identifiable variant information, date of reading, and clinical information of the variant read by the user; Step of loading a database containing clinical information on mutations; A step of searching for mutation information corresponding to the input mutation information in the database, extracting clinical information about the searched mutation information, and comparing it with the clinical information of the mutation read by the user; and A step of summarizing whether the extracted clinical information has been updated based on the date read above; A method comprising:

2. In paragraph 1, The above input receiving step is, A method for receiving, as input, at least one of a transcript number, a base position and an amino acid reference-to-base substitution mutation, an identifier number assigned to each mutation among rs, Allele ID, and Variation ID, and a reading result regarding the clinical significance of the mutation.

3. In paragraph 1, The interpretation of the clinical significance of the above mutations is as follows: A method wherein the disease is one of benign, likely benign, variant of unknown significance, likely pathogenic, and pathogenic.

4. In paragraph 1, The above input receiving step is, A method for verifying that user-readable unique identifiable mutation information and the date of reading are entered in a preset format.

5. In paragraph 1, The steps to summarize whether the above update is: A method comprising the step of determining whether there is updated clinical information prior to the date read.

6. In paragraph 5, The steps to summarize whether the above update is: For clinical information updated prior to the above reading date, A method of summarizing 'no update' when the clinical information on the searched mutation information matches the clinical information on the mutation read by the user, and summarizing 'invalid' when the clinical information on the searched mutation information matches the clinical information on the mutation read by the user.

7. In paragraph 5, The steps to summarize whether the above update is: For clinical information updated after the above reading date, A method of summarizing 'There was an update but no change' when the clinical information on the searched mutation information matches the clinical information on the mutation read by the user, and summarizing 'Inconsistency' when the clinical information on the searched mutation information matches the clinical information on the mutation read by the user.

8. The latest clinical significance of genetic mutations as a device, a processor comprising one or more cores; and memory; Including, The above processor, Enter user-read unique identifiable variant information, date of reading, and clinical information of the variant read by the user. Load a database containing clinical information on the mutation; Search for mutation information corresponding to the input mutation information in the database, extract clinical information about the searched mutation information, and compare it with the clinical information of the mutation read by the user, and A device that summarizes whether the extracted clinical information has been updated based on the date read above.

9. A computer program including commands stored in a computer-readable storage medium that cause a computer to perform the following operations, wherein the operations are: An action to input user-read unique identifiable variant information, the date read, and clinical information about the variant read by the user; The action of loading a database containing clinical information on mutations; An operation of searching for mutation information corresponding to the input mutation information in the database, extracting clinical information about the searched mutation information, and comparing it with the clinical information of the mutation read by the user; and An action to summarize whether the extracted clinical information has been updated based on the date read above; A computer program stored on a computer-readable storage medium, comprising:

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