基本信息:
- 专利标题： 핵산 서열 불균형의 결정
- 专利标题（英）：DETERMINING A NUCLEIC ACID SEQUENCE IMBALANCE
- 申请号：KR1020197037904 申请日：2008-07-23
- 公开(公告)号：KR102197512B1 公开(公告)日：2021-01-04
- 发明人： 로,육-밍데니스 , 치우,로사와이큔 , 찬,콴치 , 지,베니충잉 , 총,카춘
- 申请人： 더 차이니즈 유니버시티 오브 홍콩
- 申请人地址： The Chinese University of Hong Kong, Shatin, N. T., Hong Kong, China
- 专利权人： 더 차이니즈 유니버시티 오브 홍콩
- 当前专利权人： 더 차이니즈 유니버시티 오브 홍콩
- 当前专利权人地址： The Chinese University of Hong Kong, Shatin, N. T., Hong Kong, China
- 代理人： 특허법인한얼
- 优先权： US60/951,438 2007-07-23
- 国际申请： PCT/GB2008/002524 2008-07-23
- 国际公布： WO2009013492 2009-01-29
- 主分类号： G16B20/00
- IPC分类号： G16B20/00 ; G16B30/00 ; C12Q1/6883 ; C12Q1/6827 ; C12Q1/6888
Methods, systems, and apparatus are provided for determining whether a nucleic acid sequence imbalance exists within a biological sample. One or more cutoff values for determining an imbalance of, for example, the ratio of the two sequences (or sets of sequences) are chosen. The cutoff value may be determined based at least in part on the percentage of fetal DNA in a sample, such as maternal plasma, containing a background of maternal nucleic acid sequences. The cutoff value may also be determined based on an average concentration of a sequence per reaction. In one aspect, the cutoff value is determined from a proportion of informative wells that are estimated to contain a particular nucleic acid sequence, where the proportion is determined based on the above-mentioned percentage and/or average concentration. The cutoff value may be determined using many different types of methods, such as sequential probability ratio testing (SPRT).