System and method for cleaning noisy genetic data and determining chromosome copy number
First Claim
1. A method for measuring the amounts of fetal chromosome segments on one or more chromosomes of interest and one or more reference chromosomes in a maternal blood sample, the method comprising:
- obtaining fetal and maternal chromosome segments from cell-free DNA of the maternal blood sample comprising chromosome segments from the one or more chromosomes of interest and chromosome segments from the one or more reference chromosomes;
ligating at least one adapter to the chromosome segments to obtain adapter-ligated chromosome segments, wherein the at least one adapter comprises a universal amplification sequence; and
performing amplification of the adapter-ligated chromosome segments to generate amplified chromosome segments, and measuring the amounts of the amplified chromosome segments, wherein the measuring comprises quantitative allele measurements performed irrespective of allele value.
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Abstract
Disclosed herein is a system and method for increasing the fidelity of measured genetic data, for making allele calls, and for determining the state of aneuploidy, in one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available. Poorly or incorrectly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related individuals. In accordance with one embodiment, incomplete genetic data from an embryonic cell are reconstructed at a plurality of loci using the more complete genetic data from a larger sample of diploid cells from one or both parents, with or without haploid genetic data from one or both parents. In another embodiment, the chromosome copy number can be determined from the measured genetic data, with or without genetic information from one or both parents.
293 Citations
9 Claims
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1. A method for measuring the amounts of fetal chromosome segments on one or more chromosomes of interest and one or more reference chromosomes in a maternal blood sample, the method comprising:
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obtaining fetal and maternal chromosome segments from cell-free DNA of the maternal blood sample comprising chromosome segments from the one or more chromosomes of interest and chromosome segments from the one or more reference chromosomes; ligating at least one adapter to the chromosome segments to obtain adapter-ligated chromosome segments, wherein the at least one adapter comprises a universal amplification sequence; and performing amplification of the adapter-ligated chromosome segments to generate amplified chromosome segments, and measuring the amounts of the amplified chromosome segments, wherein the measuring comprises quantitative allele measurements performed irrespective of allele value. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9)
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Specification