Determining a nucleic acid sequence imbalance
US8706422B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Jul 23, 2008 |
| Grant date | Apr 22, 2014 |
| Priority date | — |
| Expiry date | Jul 17, 2031 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY02A90/10
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
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).
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.