Invention Grant
- Patent Title: Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA
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Application No.: US15959093Application Date: 2018-04-20
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Publication No.: US10781485B2Publication Date: 2020-09-22
- Inventor: AmirAli Hajhossein Talasaz , Gordon M. Cann
- Applicant: Illumina, Inc.
- Applicant Address: US CA San Diego
- Assignee: Illumina, Inc.
- Current Assignee: Illumina, Inc.
- Current Assignee Address: US CA San Diego
- Agency: Weaver Austin Villeneuve & Sampson LLP
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12Q1/6874 ; C12Q1/6869 ; G16B25/00 ; G16B30/00 ; C12Q1/6827

Abstract:
Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.
Public/Granted literature
- US20180237852A1 NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA Public/Granted day:2018-08-23
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