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Title:
METHOD, APPARATUS, AND SYSTEM FOR DETECTING CHROMOSOME ANEUPLOIDY
Document Type and Number:
WIPO Patent Application WO/2019/213810
Kind Code:
A1
Abstract:
Provided are a method, an apparatus, and a system for detecting chromosome aneuploidy. The method comprises: sequencing at least part of the nucleic acid in a sample to be tested to acquire a sequence result comprising read segments; comparing the read segments with a first reference sequence to acquire a comparison result, the comparison result comprising information of the read segments positioned on specific chromosomes; for a first chromosome, on the basis of the comparison result, determining the amount of read segments positioned on the first chromosome; and comparing the amount of read segments positioned on the first chromosome with the amount of read segments positioned on a corresponding first chromosome in a negative sample to determine the number of first chromosomes.

Inventors:
ZENG, Lidong (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
WU, Zengding (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
JIN, Huan (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
XU, Weibin (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
LI, Linsen (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
ZHAO, Luyang (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
ZHANG, Meng (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
YAN, Qin (1st Floor, 111 Building High-tech Industrial Park 1st Zone, No.72 Guowei Road, Liantang Street, Luohu District, Shenzhen Guangdong 0, 518000, CN)
Application Number:
CN2018/085865
Publication Date:
November 14, 2019
Filing Date:
May 07, 2018
Export Citation:
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Assignee:
GENEMIND BIOSCIENCES COMPANY LIMITED (5th & 6th F, 2nd Blk Shenye Jinyuan Bldg No.116 Qingshui River 1st Rd, Luohu District, Shenzhen Guangdong 0, 518000, CN)
International Classes:
C12Q1/68
Domestic Patent References:
WO2015184404A12015-12-03
Foreign References:
CN107133495A2017-09-05
CN107949845A2018-04-20
Attorney, Agent or Firm:
DHC IP ATTORNEYS (Suite 2201, Modern International Commercial Building Cross of Fuhua Road and Jintian Road,Futian Distric, Shenzhen Guangdong 8, 518048, CN)
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