Abstract: Disclosed is a method of diagnosing cancer and predicting the type of cancer based on a single nucleotide variant in a cell-free nucleic acid including extracting nucleic acids from a biological sample to obtain sequence information, extracting cancer-specific single nucleotide variants through filtering based on aligned reads, calculating the regional mutation density of single nucleotide variants and the frequency of mutation signature of single nucleotide variants, and inputting the calculated values into a trained artificial intelligence model to analyze output values. This method is capable of exhibiting high sensitivity and accuracy compared to other methods of diagnosing cancer and predicting the type of cancer using genetic information of cell-free nucleic acids, and of ensuring the same level of sensitivity and accuracy as cancer-tissue-cell-based methods, and can be usefully applied to other analyses using single nucleotide variants in cell-free nucleic acids.

Abstract: The present invention relates to an artificial-intelligence-based cancer diagnosis and cancer type prediction method, and, more particularly, to an artificial-intelligence-based cancer diagnosis and cancer type prediction method, which extracts nucleic acids from a biological sample to acquire sequence information, and thus generate vectorized data on the basis of aligned nucleic acid fragments, and then inputs same into a trained artificial intelligence model to analyze a calculated value. Compared with a conventional method, which uses a step of determining the number of chromosomes on the basis of a read count and utilizes each related value as a normalized value, the artificial-intelligence-based cancer diagnosis and cancer type prediction method according to the present invention generates vectorized data to perform an analysis using an AI algorithm, and thus is useful in that similar effects can be exhibited even when read coverage is low.

Abstract: The present invention relates to a method for detecting chromosomal abnormality by using information about the distance between nucleic acid fragments and, more particularly, to a method for detecting chromosomal abnormality by using a method, which extracts a nucleic acid from a biological sample so as to acquire sequence information, and then calculate the distance between nucleic acid fragment Representative Positions. A method for determining chromosomal abnormality, according to the present invention, uses a method, which analyzes and uses, unlike a method using a step of determining a chromosomal quantity on the basis of a conventional read count, the concept of the distance between aligned nucleic acid fragments and thus the conventional method has decreasing accuracy when the read count decreases.

Abstract: The present invention relates to an artificial intelligence-based chromosomal abnormality detection method, and more specifically, to an artificial intelligence-based chromosomal abnormality detection method using a method that involves: extracting nucleic acids from a biological sample to generate vectorized data on the basis of DNA fragments arranged by acquiring sequence information; and then comparing a reference value and a value calculated by inputting the vectorized data into a trained artificial intelligence model.

Abstract: The present invention relates to a amyotrophic lateral sclerosis (ALS) diagnostic composition using acid sphingomyelinase (ASM), and a method for detecting diagnostic markers and, more specifically, to a method and a composition for detecting markers for ALS, the method comprising the steps of: (a) providing a sample of a subject; (b) measuring the ASM expression level or the enzyme activation level in the sample; (c) determining that a subject, of which the ASM expression level or the enzyme activation level is increased compared to that of a normal person, has ALS. According to the investigation of the present inventors, the activity of ASM, among lipids and enzymes related to the sphingolipid metabolism, is specifically increased in a sample of an ALS patient compared to that of a normal person. ASM can be used as a marker for diagnosing ALS, thereby enabling the development of a novel and effective diagnostic reagent.

Abstract: The present invention relates to a amyotrophic lateral sclerosis (ALS) diagnostic composition using acid sphingomyelinase (ASM), and a method for detecting diagnostic markers and, more specifically, to a method and a composition for detecting markers for ALS, the method comprising the steps of: (a) providing a sample of a subject; (b) measuring the ASM expression level or the enzyme activation level in the sample; (c) determining that a subject, of which the ASM expression level or the enzyme activation level is increased compared to that of a normal person, has ALS. According to the investigation of the present inventors, the activity of ASM, among lipids and enzymes related to the sphingolipid metabolism, is specifically increased in a sample of an ALS patient compared to that of a normal person. ASM can be used as a marker for diagnosing ALS, thereby enabling the development of a novel and effective diagnostic reagent.

Abstract: Disclosed are a biological sample analysis system and method for determining whether or not each of a plurality of biological samples has a test-target property using the plurality of biological samples and a plurality of pools generated by pooling samples. The system includes a determiner configured to determine whether or not there is a possibility of a determination of a false positive according to test values for the test-target property of the plurality of pools, an additional sample selector configured to select a minimum number of additional test-target samples on which an individual test of whether or not a sample has the test-target property will be carried out from among the plurality of samples when it is determined that there is the possibility of a determination of a false positive, and a test result determiner configured to determine whether or not each of the plurality of samples has the test-target property according to test results of the additional test-target samples.

Abstract: One embodiment of the present invention provides a detection kit for detecting c-Met gene expression, wherein the detection kit includes a primer set which is specifically bound to the c-Met gene; and a cleavable probe which is specifically bound to the inside of a c-Met gene amplification product which is amplified by the primer set. Another embodiment of the present invention provides a method of measuring the c-Met gene expression by using the detection kit according to one embodiment of the present invention. The method according to one embodiment of the present invention is used to efficiently detect a low concentration of c-Met gene expression for cancer diagnosis and prognosis diagnosis.

Abstract: One embodiment of the present invention provides a detection kit for detecting a chronic myelogenous leukemia (CML) gene expression, wherein the detection kit includes a primer set which is specifically bound to the CML gene; and a cleavable probe which is specifically bound to the inside of a CML gene amplification product which is amplified by the primer set. Another embodiment of the present invention provides a method of measuring the CML gene expression by using the detection kit according to one embodiment of the present invention. The method according to one embodiment of the present invention is used to efficiently detect a low CML gene expression for CML diagnosis and prognosis diagnosis.

Abstract: A method for detecting a pooling error including the steps of determining an expected number of normal chromosome strands of a plurality of samples contained in a first pool based on ploidy types of the plurality of samples, determining whether a number of normal chromosome strands is different from the expected number of chromosome strands determined based on base sequences of the plurality of samples contained in the first pool, determining whether pooling is equilibrated based on an allele frequency value for a standard variant of the first pool, and detecting a pooling error using results of the determining the number of normal chromosome strands and the determining whether the pooling is equilibrated.

Abstract: Provided are a method and apparatus for accumulating positive frequency data. The method includes receiving result data of pooling tests performed on a plurality of pools on a two dimensional (2D) matrix, the pooling test result data including allele frequencies of positive pools for a standard variant, predicting the number of positive samples for the standard variant from the allele frequencies of the positive pools, calculating a positive frequency for the standard variant from the number of positive samples, and updating the positive frequency for the standard variant to positive frequency database.

Abstract: Provided are a method and apparatus for verifying pool test result. The method includes receiving pool test result data obtained by performing a pool test on a plurality of pools configured based on a two-dimensional (2D) matrix, the pool test result data including allele frequencies of the plurality of pools, extracting a pool-specific variant from the matrix using the allele frequencies determining whether there is an intersecting pool among pools intersecting, in the matrix, a pool showing the pool-specific variant and determining whether the pool test result data is erroneous based on results of the determining whether there is an intersecting pool.

Abstract: The present invention relates to a method for diagnosing myotonic dystrophy type 1 or a method for identifying myotonic dystrophy type 1 patients by using a computer processor. According to the method of the present invention, it is possible to take suitable measures related to symptoms, which will occur later, by classifying a genetic carrier and first to third risk groups according to the repetition number of the CTF sequence of 3?-noncoding region of the DMPK gene. Particularly, the method of the present invention numerically provides a genetic carrier or the approximate prevalence of a disease with respect to an unborn baby, thereby allowing the risk of disorders to be accurately understood.

Abstract: There are provided a system and method for analyzing a biological sample.

Abstract: One embodiment of the present invention provides a detection kit for detecting c-Met gene expression, wherein the detection kit includes a primer set which is specifically bound to the c-Met gene; and a cleavable probe which is specifically bound to the inside of a c-Met gene amplification product which is amplified by the primer set. Another embodiment of the present invention provides a method of measuring the c-Met gene expression by using the detection kit according to one embodiment of the present invention. The method according to one embodiment of the present invention is used to efficiently detect a low concentration of c-Met gene expression for cancer diagnosis and prognosis diagnosis.

Abstract: The present invention relates to a silk nanofiber nerve conduit characterized in that fibroin nanofibers having a diameter of 200 to 400 nm, originated from silk fiber, are stacked layer upon layer to form a porous conduit-shape; and a method for producing thereof, more specifically, to a method for producing a silk nanofiber nerve conduit comprising: (Step 1) preparing a fibrous spinning solution; (Step 2) producing a silk nanofiber of conduit-shape by electrospinning the fibrous spinning solution prepared in step 1 into the cylindrical collecting part coated with polyethyleneoxide; and (Step 3) separating a silk nanofiber of conduit-shape produced in step 2 from the collecting part. The silk nanofiber nerve conduit of the present invention has excellent biocompatibility; allows the body fluid to be exchanged inter in and out of conduit through pores of the conduit, as well; has a proper elasticity, tensile strength, and tear strength.

Abstract: Disclosed are a biological sample analysis system and method for determining whether or not each of a plurality of biological samples has a test-target property using the plurality of biological samples and a plurality of pools generated by pooling samples. The system includes a determiner configured to determine whether or not there is a possibility of a determination of a false positive according to test values for the test-target property of the plurality of pools, an additional sample selector configured to select a minimum number of additional test-target samples on which an individual test of whether or not a sample has the test-target property will be carried out from among the plurality of samples when it is determined that there is the possibility of a determination of a false positive, and a test result determiner configured to determine whether or not each of the plurality of samples has the test-target property according to test results of the additional test-target samples.

Abstract: One embodiment of the present invention provides a detection kit for detecting a chronic myelogenous leukemia (CML) gene expression, wherein the detection kit includes a primer set which is specifically bound to the CML gene; and a cleavable probe which is specifically bound to the inside of a CML gene amplification product which is amplified by the primer set. Another embodiment of the present invention provides a method of measuring the CML gene expression by using the detection kit according to one embodiment of the present invention. The method according to one embodiment of the present invention is used to efficiently detect a low CML gene expression for CML diagnosis and prognosis diagnosis.

Abstract: The present invention provides a method for detecting a gene mutation, comprising the step of performing PCR using generic PCR primers together with a blocking primer which competes with the generic primers and was modified at one end, and a method of diagnosing gene mutation-related diseases using the same. According to the invention, detection sensitivity and specificity can be increased by blocking the amplification of normal DNA and selectively amplifying mutant DNA.

Abstract: The present invention relates to a silk nanofiber nerve conduit characterized in that fibroin nanofibers having a diameter of 200 to 400 nm, originated from silk fiber, are stacked layer upon layer to form a porous conduit-shape; and a method for producing thereof, more specifically, to a method for producing a silk nanofiber nerve conduit comprising: (Step 1) preparing a fibrous spinning solution; (Step 2) producing a silk nanofiber of conduit-shape by electrospinning the fibrous spinning solution prepared in step 1 into the cylindrical collecting part coated with polyethyleneoxide; and (Step 3) separating a silk nanofiber of conduit-shape produced in step 2 from the collecting part. The silk nanofiber nerve conduit of the present invention has excellent biocompatibility; allows the body fluid to be exchanged inter in and out of conduit through pores of the conduit, as well; has a proper elasticity, tensile strength, and tear strength.