METHOD, APPARATUS, AND SYSTEM FOR DETECTING CHROMOSOME ANEUPLOIDY

The present disclosure discloses a method, a device and a system for detecting chromosomal aneuploidy. The method comprises: sequencing at least a portion of a nucleic acid in a sample under test to obtain a sequencing result including reads; aligning the reads to a first reference sequence to obtai...

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Bibliographic Details
Main Authors XU, Weibin, ZHAO, Luyang, ZHANG, Meng, WU, Zengding, JIN, Huan, YAN, Qin, ZENG, Lidong, LI, Linsen
Format Patent
LanguageEnglish
French
German
Published 21.07.2021
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
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Summary:The present disclosure discloses a method, a device and a system for detecting chromosomal aneuploidy. The method comprises: sequencing at least a portion of a nucleic acid in a sample under test to obtain a sequencing result including reads; aligning the reads to a first reference sequence to obtain an alignment result including specific chromosomes to which the reads are mapped; determining, for a first chromosome, the amount of reads mapped to the first chromosome based on the alignment result; and comparing the number of the reads mapped to the first chromosome with the amount of reads in a negative control mapped to the first chromosome to determine the number of the first chromosome. When the method is employed to detect chromosomal aneuploidy, the detection results acquired have relatively high sensitivity and accuracy.
Bibliography:Application Number: EP20180917705