Microsatellite unstable site combination based on NGS technology and application and detection method thereof

• Main Authors: CAI WEIJING, LINGHU JINGJING, YAN LINGHUA
• Format: Patent
• Language: Chinese; English
• Published: 14.03.2023
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

The invention discloses a microsatellite unstable site combination based on an NGS technology and application and a detection method of the microsatellite unstable site combination, the microsatellite unstable site combination comprises a combination of at least 1800 microsatellite sites with serial numbers of MS-1 to MS-3200 shown in a table 1, and the positions of the microsatellite sites in a genome are shown in the table 1; the detection method comprises the following steps: performing high-throughput sequencing on a to-be-detected tumor sample by adopting a reagent for detecting the microsatellite site combination to obtain sample targeted capture sequencing data; and processing the sample targeted capture sequencing data, and inputting a numerical value obtained by processing into an MSI model to obtain an MSI final value y so as to determine the unstable state of the genome microsatellite. According to the microsatellite unstable site combination and the detection method provided by the invention, effi