Array-based methods for analysing mixed samples using differently labelled allele-specific probes

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United States of America Patent

PATENT NO 11441174
APP PUB NO 20210147920A1
SERIAL NO

16616741

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This disclosure provides methods and kits useful in analysis of mixed nucleic acid populations, including for multiplex genotyping of a mixed nucleic acid sample and for detecting differences in copy number of a target polynucleotide and/or a target chromosome (e.g., microdeletions, duplications and aneuploidies). The disclosure also provides methods and systems useful in the diagnosis of genetic abnormalities in a mixed nucleic acid population taken non-invasively from an organism, such as a sample of blood, plasma, serum, urine stool or saliva. The disclosed methods and systems find use in multiple applications, including prenatal testing and cancer diagnostics. The method is based on the hybridisation of amplified fragments obtained from the sample, e.g. using molecular inversion probes (MIP) to an oligonucleotide array and the detection of the alleles based on different signals from the different alleles of the SNP.

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Chadha, Monica Fremont, US 4 0
Fung, Eric Los Altos, US 14 252
Sapolsky, Ronald Palo Alto, US 10 181
Schmidt, Jeanette Palo Alto, US 8 6
Shapero, Michael Campbell, US 14 597
Shukla, Anju San Jose, US 4 0

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