Methods and processes for non-invasive assessment of genetic variations
US10930368B2 · kind B2 · utility
3Cited by
34References
14Claims
0Family size
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Key dates
| Filing date | Apr 2, 2014 |
| Grant date | Feb 23, 2021 |
| Priority date | — |
| Expiry date | Dec 11, 2037 |
Classification
- Technology area (CPC Y)Emerging Cross-Sectional Technologies
- CPC primaryY02A90/10
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
A method and system for analyzing circulating cell-free nucleic acids from a pregnant female with reduced bias, Counts of sequence reads mapped to portions of a reference genome are obtained. A regression model is generated that models the relationship between the counts and the GC content. The read counts are normalized according to the regression model to remove the GC bias. The normalized counts are used for further analysis, such as the detection of fetal aneuploidy.
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