Search International and National Patent Collections

1. (WO2018223053) ARRAY-BASED METHODS FOR ANALYSING MIXED SAMPLES USING DIFFERENTLY LABELLED ALLELE-SPECIFIC PROBES

Pub. No.:    WO/2018/223053    International Application No.:    PCT/US2018/035684
Publication Date: Fri Dec 07 00:59:59 CET 2018 International Filing Date: Sat Jun 02 01:59:59 CEST 2018
IPC: C12Q 1/6827
C12Q 1/6837
Applicants: AFFYMETRIX, INC.
Inventors: SHAPERO, Michael
SAPOLSKY, Ronald
FUNG, Eric
SCHMIDT, Jeanette
CHADHA, Monica
SHUKLA, Anju
Title: ARRAY-BASED METHODS FOR ANALYSING MIXED SAMPLES USING DIFFERENTLY LABELLED ALLELE-SPECIFIC PROBES
Abstract:
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.