COPY NUMBER VARIANT ANALYSIS METHOD AND APPARATUS, AND STORAGE MEDIUM

• Main Authors: CHEN, Yanxiang, ZENG, Lidong
• Format: Patent
• Language: Chinese; English; French
• Published: 04.07.2024
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

A copy number variant analysis method and apparatus, and a storage medium. The method in the present application comprises: acquiring all breakpoints of each chromosome of a sample genome to be subjected to detection, and taking two segments, breakpoints of which are associated, as copy number variant segments to be analyzed; taking, as a first difference value, a difference value between average copy-ratio values of the two copy number variant segments to be analyzed, the breakpoints of which are associated, and performing breakpoint sequencing according to the first difference value; processing the breakpoints in sequence, filtering the breakpoints on the basis of the first difference value of the breakpoints and a preset minimum threshold value and/or on the basis of the difference between the copy number variant segments to be analyzed of the breakpoints and a normal segment, and determining candidate copy number variant segments; and filtering the candidate copy number variant segments on the basis of co