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AssigneeIllumina, Inc.
InventorsAnupama Srinivasan, Darya I. Chudova, Richard P. Rava
Estimating the term…
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 maternal 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.
A method for determining at least one sequence of interest of a fetus of a pregnant mother, the method comprising:
A method, implemented at a computer system that includes one or more processors and system memory, for determining a condition of a fetus related to a sequence of interest using a sample from a mother carrying the fetus, the method comprising:
The method of 6, wherein the specifically enriched cellular DNA and the specifically enriched cfDNA were combined for amplification and/or sequencing.
The method of 7, wherein the specifically enriched cellular DNA and the specifically enriched cfDNA were combined in similar quantity.
The method of 6, further comprising determining a fetal zygosity of the sequence of interest.
The method of 9, wherein determining the fetal zygosity comprises determining that the mother is heterozygous and the fetus is homozygous.
The method of 9, further comprising determining a fetal fraction assuming the fetal zygosity.
A computer program product comprising a non-transitory machine readable medium storing program code that, when executed by one or more processors of a computer system, causes the computer system to implement a method for determining a sequence of interest for a fetus of a pregnant mother, said program code comprising:
Dependencies are inferred from the claim text.