Title:
染色体異常の検出
Document Type and Number:
Japanese Patent JP7079433
Kind Code:
B2
Abstract:
Embodiments of the present invention provide a computer-implemented method of determining a probability of a fetal chromosomal abnormality, the method comprising determining data indicative of a first parameter for a target chromosome and a second parameter representative of chromosome sequence density from a biological sample obtained from a female subject, determining a likelihood ratio indicative of fetal chromosomal abnormality, wherein the likelihood ratio is determined as a ratio between a probability of chromosomal abnormality and a probability of chromosomal normality according to respective abnormality and normality models based on the first and second parameters, determining one or more performance parameter thresholds, and comparing an estimate of one or more performance parameters associated with the sample against the one or more performance parameter thresholds.
Inventors:
Foreman, Matthew Charles
Application Number:
JP2018533694A
Publication Date:
June 02, 2022
Filing Date:
December 21, 2016
Export Citation:
Assignee:
YOURGENE HEALTH UK LTD
International Classes:
G16B20/00
Foreign References:
| US20150267255 | ||||
| US20120190557 | ||||
| US20070148631 | ||||
| WO2013050383A2 | ||||
| US20100112590 |
Other References:
Optimal Detection of Fetal Chromosomal Abnormalities byMassively Parallel DNA Sequencing of Cell-Free Fetal DNAfrom Maternal Blood,Clinical Chemistry,2011年,Vol.57 No.7,pp.1042-1049
Attorney, Agent or Firm:
Patent Business Corporation Unias International Patent Office