Invention Application
US20160186253A1 NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA
有权
使用细胞DNA和细胞免费DNA进行基因遗传状态的非侵入性初步诊断
- Patent Title: NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA
- Patent Title (中): 使用细胞DNA和细胞免费DNA进行基因遗传状态的非侵入性初步诊断
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Application No.: US14802873Application Date: 2015-07-17
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Publication No.: US20160186253A1Publication Date: 2016-06-30
- Inventor: AmirAli Hajhossein Talasaz , Gordon M. Cann
- Applicant: Illumina, Inc.
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; G06F19/22

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
- US09982295B2 Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA Public/Granted day:2018-05-29
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