METHOD, APPARATUS, AND SYSTEM FOR DETECTING CHROMOSOMAL ANEUPLOIDY

• Main Authors: XU, Weibin, ZHAO, Luyang, ZHANG, Meng, WU, Zengding, JIN, Huan, YAN, Qin, ZENG, Lidong, LI, Linsen
• Format: Patent
• Language: Chinese; English; French
• Published: 14.11.2019
• Subjects: APPARATUS FOR ENZYMOLOGY OR MICROBIOLOGY; 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

Provided are a method, apparatus, and system for detecting chromosomal aneuploidy. The method comprises: sequencing at least one part of a nucleic acid in a sample to be tested, to obtain a sequencing result comprising a read segment; comparing the read segment to a reference sequence to obtain a comparison result, the comparison result comprising information localizing the read segment in a specific chromosome; filtering the comparison result, comprising filtering out the read segments of regions having a comparison capability of not 1 and localized on the reference sequence in the comparison result, and defining as 1 the comparison capability of the reference sequence to localize to the reference sequence a unique position of the reference sequence; with regard to a first chromosome, on the basis of the comparison result, determining the quantity of read segments localized to the first chromosome; comparing the quantity of read segments localized to the first chromosome to the quantity of read segments in a