Title:
METHOD FOR DETERMINING CHROMOSOME ABNORMALITIES
Document Type and Number:
WIPO Patent Application WO/2017/126943
Kind Code:
A1
Abstract:
The present invention relates to a method for determining chromosome abnormalities. More specifically, the present invention relates to a new method for determining chromosome abnormalities, wherein the method includes sequencing next-generation sequencing (NGS)sequence data regardless of an NGS analysis platform, determining male or female by extracting a unique-read from the sequenced sequence data, and setting a threshold line using initial learning by linear discriminant analysis (LDA) of existing data, and can thereby be applied for both autosomes and sex-chromosomes, and can improve in accuracy and sensitivity as the number of diagnoses increases.
Inventors:
KWON CHANG HYUK (KR)
YUN SEON YOUNG (KR)
LEE MIN SEOB (KR)
YUN SEON YOUNG (KR)
LEE MIN SEOB (KR)
Application Number:
PCT/KR2017/000741
Publication Date:
July 27, 2017
Filing Date:
January 20, 2017
Export Citation:
Assignee:
EONEDIAGNOMICS CO LTD (KR)
International Classes:
C12Q1/68; G16B30/00; G16B40/00
Domestic Patent References:
| WO2014190286A2 | 2014-11-27 |
Foreign References:
| KR20150070111A | 2015-06-24 | |||
| KR20140023847A | 2014-02-27 | |||
| KR20100058503A | 2010-06-03 |
Other References:
JENSEN: "High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma", PLOS ONE, vol. 8, no. 3, 2013, pages e57381, 1 - 8, XP055089612, DOI: doi:10.1371/journal.pone.0057381
Attorney, Agent or Firm:
KIM, Tae Sun (KR)
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