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.
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Inventors:
ZENG LIDONG (CN)
WU ZENGDING (CN)
JIN HUAN (CN)
XU WEIBIN (CN)
LI LINSEN (CN)
ZHAO LUYANG (CN)
ZHANG MENG (CN)
YAN QIN (CN)
WU ZENGDING (CN)
JIN HUAN (CN)
XU WEIBIN (CN)
LI LINSEN (CN)
ZHAO LUYANG (CN)
ZHANG MENG (CN)
YAN QIN (CN)
Application Number:
PCT/CN2018/085865
Publication Date:
November 14, 2019
Filing Date:
May 07, 2018
Export Citation:
Assignee:
GENEMIND BIOSCIENCES CO LTD (CN)
International Classes:
C12Q1/68
Domestic Patent References:
| WO2015184404A1 | 2015-12-03 |
Foreign References:
| CN107133495A | 2017-09-05 | |||
| CN107949845A | 2018-04-20 |
Other References:
PAPAGEORGIOU, E. A. ET AL.: "Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21", NAT. MED., vol. 17, 2011, pages 510 - 513, XP055358566, DOI: 10.1038/nm.2312
DRISCOLL, D. A.GROSS, S.: "Prenatal Screening for Aneuploidy", N. ENGL. J. MED., vol. 360, 2009, pages 2556 - 2562
LO, Y. M. D. ET AL.: "Presence of fetal DNA in maternal plasma and serum", LANCET, vol. 350, 1997, pages 485 - 487, XP005106839, DOI: 10.1016/S0140-6736(97)02174-0
CHIU, R. W. K. ET AL.: "Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma", PROC. NATL. ACAD. SCI., vol. 105, 2008, pages 20458 - 20463, XP002620454, DOI: 10.1073/pnas.0810641105
CHITKARA, U. ET AL.: "Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood", PROC. NATL. ACAD. SCI. U. S. A, vol. 105, 2008, pages 16266 - 71, XP055523982, DOI: 10.1073/pnas.0808319105
G. MYERS: "A fast bit-vector algorithm for approximate string matching based on dynamic programming", JOURNAL OF THE ACM, vol. 46, no. 3, 1999, pages 395 - 415, XP058340666, DOI: 10.1145/316542.316550
See also references of EP 3795692A4
DRISCOLL, D. A.GROSS, S.: "Prenatal Screening for Aneuploidy", N. ENGL. J. MED., vol. 360, 2009, pages 2556 - 2562
LO, Y. M. D. ET AL.: "Presence of fetal DNA in maternal plasma and serum", LANCET, vol. 350, 1997, pages 485 - 487, XP005106839, DOI: 10.1016/S0140-6736(97)02174-0
CHIU, R. W. K. ET AL.: "Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma", PROC. NATL. ACAD. SCI., vol. 105, 2008, pages 20458 - 20463, XP002620454, DOI: 10.1073/pnas.0810641105
CHITKARA, U. ET AL.: "Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood", PROC. NATL. ACAD. SCI. U. S. A, vol. 105, 2008, pages 16266 - 71, XP055523982, DOI: 10.1073/pnas.0808319105
G. MYERS: "A fast bit-vector algorithm for approximate string matching based on dynamic programming", JOURNAL OF THE ACM, vol. 46, no. 3, 1999, pages 395 - 415, XP058340666, DOI: 10.1145/316542.316550
See also references of EP 3795692A4
Attorney, Agent or Firm:
DHC IP ATTORNEYS (CN)
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