Enhanced risk probabilities using biomolecule estimations
First Claim
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1. A computer-implemented process for calculating risk probabilities for fetal aneuploidies in a maternal sample, wherein at least one processor coupled to a memory executes a software component that performs the process comprising:
- determining a frequency of a first set of at least twelve or more non-polymorphic loci from a first chromosome in the maternal sample;
determining a frequency of a second set of at least twelve or more non-polymorphic loci from a second chromosome in the maternal sample;
determining the frequency of a third set of at least twelve or more polymorphic loci from one or more chromosomes other than the first and second chromosome in the maternal sample;
determining an overall frequency of the non-polymorphic and polymorphic loci;
computing a chromosome proportion metric for the first and second chromosome in the maternal sample using the overall frequency of the non-polymorphic loci;
comparing the frequency of the polymorphic loci to determine a percent fetal nucleic acid in the maternal sample;
for each first and second chromosome, measuring a deviation from an expected chromosome proportion metric when a chromosome is euploid;
for each first and second chromosome, measuring a deviation from an expected chromosome proportion metric when a chromosome is aneuploid using the computed percent fetal nucleic acid in the maternal sample; and
calculating an initial risk probability score for the maternal sample based on the deviations from the expected chromosome proportion metrics for the first and second chromosomes.
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Abstract
The present invention provides processes for determining more accurate risk probabilities for medical conditions. The risk probabilities of the presence or absence of a medical condition are calculated using frequency data from selected biomolecules and biomolecule source contribution of at least one source in a mixed sample.
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Citations
11 Claims
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1. A computer-implemented process for calculating risk probabilities for fetal aneuploidies in a maternal sample, wherein at least one processor coupled to a memory executes a software component that performs the process comprising:
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determining a frequency of a first set of at least twelve or more non-polymorphic loci from a first chromosome in the maternal sample; determining a frequency of a second set of at least twelve or more non-polymorphic loci from a second chromosome in the maternal sample; determining the frequency of a third set of at least twelve or more polymorphic loci from one or more chromosomes other than the first and second chromosome in the maternal sample; determining an overall frequency of the non-polymorphic and polymorphic loci; computing a chromosome proportion metric for the first and second chromosome in the maternal sample using the overall frequency of the non-polymorphic loci; comparing the frequency of the polymorphic loci to determine a percent fetal nucleic acid in the maternal sample; for each first and second chromosome, measuring a deviation from an expected chromosome proportion metric when a chromosome is euploid; for each first and second chromosome, measuring a deviation from an expected chromosome proportion metric when a chromosome is aneuploid using the computed percent fetal nucleic acid in the maternal sample; and calculating an initial risk probability score for the maternal sample based on the deviations from the expected chromosome proportion metrics for the first and second chromosomes. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11)
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Specification