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
  • Application No.: US14802873
    Application Date: 2015-07-17
  • Publication No.: US20160186253A1
    Publication Date: 2016-06-30
  • Inventor: AmirAli Hajhossein TalasazGordon M. Cann
  • Applicant: Illumina, Inc.
  • Main IPC: C12Q1/68
  • IPC: C12Q1/68 G06F19/22
NON-INVASIVE PRENATAL DIAGNOSIS OF FETAL GENETIC CONDITION USING CELLULAR DNA AND CELL FREE DNA
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.
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