Methods and processes for non-invasive assessment of genetic variations

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United States of America Patent

PATENT NO 10930368
APP PUB NO 20160110497A1
SERIAL NO

14781987

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Abstract

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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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Patent Owner(s)

Patent OwnerAddress
SEQUENOM INC3595 JOHN HOPKINS COURT SAN DIEGO CA 92121

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Deciu, Cosmin San Diego, US 62 1831
Dzakula, Zeljko San Diego, US 35 1173
Zhao, Chen San Diego, US 342 2300

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