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AssigneeNatera, Inc.
InventorsMatthew Rabinowitz, Milena Banjevic, Zachary Demko, David Johnson
Estimating the term…
A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects. In accordance with one embodiment of the invention, incomplete genetic data from an embryonic cell is reconstructed using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In accordance with another embodiment of the invention, incomplete genetic data from a fetus is acquired from fetal cells, or cell-free fetal DNA isolated from the mother's blood, and the incomplete genetic data is reconstructed using the more complete genetic data from a larger sample diploid cells from one or both parents, with or without genetic data from haploid cells from one or both parents, and/or genetic data taken from other related individuals. In one embodiment, the genetic data can be reconstructed for the purposes of making phenotypic predictions. In another embodiment, the genetic data can be used to detect for aneuploides and uniparental disomy.
A method for determining genetic data of a target individual based on the imperfect knowledge of the target individual's genetic data, and knowledge of the genetic data of one or more individuals genetically related to the target, the method comprising:
A method wherein the measurement of multiple loci on a given segment of a given chromosome of a target individual is used to determine the number of instances of the given segment in the genome of the target individual, the method comprising:
A method for determining the genetic data of a target individual, and also the number of instances of chromosomes or segments of chromosomes that are present in the target's genome, based on the imperfect knowledge of the target individual's genetic data, and knowledge of the genetic data of one or more individuals genetically related to the target, the method comprising:
Dependencies are inferred from the claim text.