- 专利标题: ARRAY-BASED METHODS FOR ANALYSING MIXED SAMPLES USING DIFFERENTLY LABELLED ALLELE-SPECIFIC PROBES
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申请号: US16616741申请日: 2018-06-01
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公开(公告)号: US20210147920A1公开(公告)日: 2021-05-20
- 发明人: Michael SHAPERO , Ronald SAPOLSKY , Eric FUNG , Jeanette SCHMIDT , Monica CHADHA , Anju SHUKLA
- 申请人: AFFYMETRIX, INC.
- 申请人地址: US CA Carlsbad
- 专利权人: AFFYMETRIX, INC.
- 当前专利权人: AFFYMETRIX, INC.
- 当前专利权人地址: US CA Carlsbad
- 国际申请: PCT/US2018/035684 WO 20180601
- 主分类号: C12Q1/6837
- IPC分类号: C12Q1/6837 ; C12Q1/6827
摘要:
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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